Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

Samplehapid

No_hapid

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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
ADARB2_chr10_1172313_1742525	1238916	CCCCTCTC others(1323): Show CCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCC TCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTC CCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCT CCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0063 a0002c0002t0063	a0002c0002t0063g0091 a0002c0002t0063g0091	1	106	0.0094	-1330	c.136 others(19): Show c.1361+1885_1361+3214del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
DHRSX_chrX_2214506_2505976	2279475	GAGAGAGA others(1322): Show GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATG GGGGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGA GAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AGGAGGAGGAAATGGGGGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	50	0.0200	-1329	c.388 others(19): Show c.388+10698_388+12026del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
SBF2_chr11_9773668_10299219	9916853	AGAGTACA others(1322): Show AGAGTACAGGAGCAAATTACCATGCCTGACCCTGAACTTGTTTCTTAATG ACAACATAAAATTGGATACTAGTCAGAAGATCAACAGCCTCTTGTTTGGC TTGGGCCTTCTGTAACCCCCACCCTTATCAACCAAATGGATTATACTTAG ACATTTAATTTAACCTCTGTACCATTTAAGATTACACATGTGTTCTTTTT TTTATTTTCATTTAAAAAAAACTCACAAACTTCCATTTCAATATGAAAGA TCTAGGAAATACATGTAAGTGAAAAGAAAGCAAAATATCTTGTGATAAAT CCTGCCATCTTTGAATATCAATGTAACACTTTGGTGTCAATACTTCATTT TCTTCCTAATTGCAGATCATATATTTATTTATATAATTTATCTTTTATAA AGTCACTTTATTCTTGAACTGATTTCCTTCCTTGGCCTCTGTGACCTTCT TTTGTCTCAGGTCCCATTACAAGTTTTTTTGTTTTTGTTTTTGTTTTGAG ACAGAATCTCCCTCTGTCACCCAGGCTGAAGTGCAGTGACACGGTCTTGG CTCCCTGCAACCTCCGCCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGCC TCCCTAGTAGCTGGGATTACAGGCACACACCACCAGGCCCAGCTAATTTT TATATTTTTACCAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTG AACTCCTGAGCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCACTGCGCCCAGCCACAAGTTTTTATTATTCTATC TTCCCTTCTTAATATTAGTATTCCTCACTTTTTTTTTTCATCTTCAGATC TCTTCTTATGGTACGTGCCTTCCTGAGGTTAGCGCGACCATTTTTGTAAT ATAAAGCACCACTGGAATCTGTATCGCCAGCCTAGACCACCCTCCTCAGC TCCATCTGACCGGACACCTCCAATTTGATGTCTTTAAAAACCCCAAACTT GATATATCCTGAACTCAATTATCTGTACCCAGGCCTCCGACACTCACCCT TAAGCATGATCCTCTTCCACACTATTTTGGTAAACAGGACCAGCATTTAT TCAGTCGCCTAGCCAAAAACCTTTCCATCACATCATACCCTACGATTCCA TCACATATGAACTTGATGCCTGCAAAGTGACCTTCTTTCTATCTATCCAC CCAACAATATGTTTAGTTGAAATAGGCGCATCTAGGGACCACGAATTAAG CAGTTATATGATCATTGCCCTCTTGAAGCTTAATCAAGTACTGTTATTTC TATCTTCGCCACATTTGTCATCGGCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG03139.hp1 others(2): Show HG02486.hp2 HG02809.hp2 HG03139.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0005 a0001c0012t0005 a0001c0001t0003 a0001c0001t0005 a0001c0012t0005	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 others(2): Show a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0005g0187 a0001c0012t0005g0194	5	224	0.0223	-1329	c.186 others(21): Show c.1861-22171_1861-20843del	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
DAD1_chr14_22559907_22594224	22583318	AGAAAGGA others(1321): Show AGAAAGGAAAAAGCAGTGAGGTGAGACAGAACAAGCAGGAGAGTGTTGTA TTCAAGAAAAAACTTTCCTTTTACACAGAAGCCAATACCTACATTAAATG CTAAACGTTGCAACATGGCAAGAGTAGTTTCAGTGAAGTAATTCAGTGAA GTAGTGAGGACAGACCAATACCAAGAGTGGGTTAAGGAATGAATAGTTAA GGGAGGAAGTAGGAACATTAATTATTCTTTCAAGAAATTCTGTAATGATG GAAAGGAAATGGGATGGTAGCTAGAAGATTATCTGTGGTCAAACGGATTT TTTTTAAATAGACAATATTAGAACATGTTTGTATGATGGGAATGATCCAG GAGAGAAACAGAAATTAATGACACGGAACAGAGGAATAATTGCAGAAGCG GAGTCCCTGAGTGAGCAAGGGAAGACTGGATCCTCTGCACAAGCAGAGCT TTCACAGGAAAGAGACACATCATCCACCATGAGAAGTCAGAGAGTATGGG TATAAAAGTAGGTGATCTGTTATGATTCAGTGGTGAAAAGATGAAGGAAT TCTTATCTACTTCTTTTTTTTAGTGAAAAAATAAAAGCAAGATCACCAAC TAAGAATAAAGGAAAAGAGGAAAAATAGAGTGATTTATGAAGCCTACTTT AGGAAGGCGAATGTATAAGAGAAATATTATTGCAGGACCACTAGGCAGGG TTGGATGCACATTGTGTTCCCATTCTCACCAATAATTCTCCATCAGCACC ATATCCATATTTACTTGTCTGTATTTCCCACTAATTACAAACTCTGTGAG AGTAGAAGCCACGTCTGTGTGCTTCACAGTTGAATTCCCAGCACCTTGGC AGAGAACCTAGCACATCATTGCTCACTATTCCTGACATGACTATAGGCCT GCTCACCATTTAACATATACAGTGTTCAGCACTGAGGATGGAGAGATGAG AAGACAGCCCCTGCCCTCAAGGGCTCACCTTCCAGAGAGAAGGCAGACAC CCAAATACAGCACAATGCCATATCTCTCTCACACACACACATACAAGGTG AAAAAGGAATACAGAGGAAAGACCTCAATCTGCTGGAGAGTCAGGGAAGG GTTCCAAAGGGCAATAAGCCAGGCATAGTGCTGTGTGCCTATAGTCCTAG CTACTCAGGAGGCTGAGGCAGGACTGCTTGAGCCAAGGAGTTTGAGGCCA GCCTGGGCAACATAGCAAGACCTTGTTCTCTTTAAAAACAGTAACAAAAA AAAAAGGAAATTGCACTTGAGCTGAGAAGTCTAAAAAGTGAAGGAATTTT GAAGGCAGTCAAGCAAAGGCAAATAGTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03927.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG03927.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0206 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212	4	386	0.0104	-1328	c.211 others(17): Show c.211+4301_211+5628del	DAD1	ENSG00000129562.11	transcript	ENST00000250498.9	protein_coding	1/2			chr14	TogoVar
GAREM1_chr18_32258522_32475882	32308199	AACTCTTA others(1320): Show AACTCTTAAATGATATTCTCTATTAAACACATTTTAATGAATACATTCAG TCATGGTATTCTATATTAAAAAAAGAACTCTAAAATGTATAAATTTAAGT GTTATCCTCTCAGTCATTCTGACTTACTACAAATTCACCAAGAAAAGCTG CTAGAGGCATTTAAAAAAATAGTATACATGAGCAATATGTGGCAAAAGAT GGAATGTTACATTTTAATACTAGAGAAAATCTTTAAAAATCACTTAAAAA TTTACATTTGATTTCTTTATTAGCAAATGAAATATTTTTCTAGAAAGGAG TTTAAAACTACTAACTTTCTAAAAAAAACTTATTTTTTTTTCATTTAGAG AATTCTAAATATAAGTTTTAGGGAGAGATTTAAGTCATATCAAAACACTA ATGGAATAGGATTTAACTTCTGACCAATGAGTCTAGGTATGTTTAAAAAT GAACATGTTTGCACAAGTTTTCACTGTAAACAAATGCAAGCTGTCTTGAC TGCTCATGTATTAGGGCCACTGAAAAAGTTAAAAACGATAAATATTTTTG TATGTAAGCATAATTTACTTAGTAAAGATTTTACAAAATATAAAATATCA CTCATCTTAATAATAAAACTAAAGAGCGTAGACCAAAGCAGCTGTATTTT GGAACTGGAAGAAGAAATGACTTAGCTTAGACAATGAAATGGGCAGAACC GTTTCTCCAATAAGGGGCTGTCCTAGGCATCTCCTCCCTTTCCTGAAGAG TGTGGGTGGAATGACTCATCCACAAAGACACTGCTGCATTCTTGGGCCAA GACACCATGTAGTCTGTTTTTCACATAGAGTGGATTTCTAAGAAACAGGA ATCTTGACCCCCTAAATCTTGAAATGTTTGGAAAATGTGATTTAGGTGGA CTTTGGGCTGAAATGACATTAAAGAGAAAACCCCTTCAATGTGAACACTT TCTAAAGTGTTTTAGTGTAATTATGAGTATTGCTGGAGAAAATGTGGAAG ATTTGCAGGCAATACGATGGGCCTGGTTGGTGGCTTGCTTCTCTGGTCAG TCCCTCTTCAACAGCAAGTCTAGTCAAAGGACCTCGGTCAACATCTGGAC AAGGACTGCACTGTCCCTTTAAGAATGCAGAACAAGGCCAGACACGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACG AGGTCAGGAGCTTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCT ACTAAAAATACAAAAAAAATAGCTGGGCGTGGCGGTGTGTGCCTATAGCC CCAGCTGCTGGGGAGACTGAAGCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01361.hp2 others(18): Show HG00735.hp2 HG01346.hp2 HG01361.hp2 HG02109.hp2 HG02257.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18952.hp2 NA18975.hp2 NA18995.hp2 NA19082.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0007 a0008 a0010	a0001c0002 a0001c0004 a0001c0008 others(10): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0017 a0001c0024 a0005c0012 a0005c0014 a0006c0022 a0006c0030 a0007c0032 a0008c0033 a0010c0034	a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 others(12): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 a0001c0008t0014 a0001c0009t0001 a0001c0017t0022 a0001c0017t0036 a0001c0024t0017 a0005c0012t0005 a0005c0014t0005 a0006c0022t0020 a0006c0030t0020 a0007c0032t0016 a0008c0033t0001 a0010c0034t0005	a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0004t0001g0125 others(18): Show a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0004t0001g0125 a0001c0004t0001g0166 a0001c0004t0005g0090 a0001c0008t0014g0012 a0001c0009t0001g0050 a0001c0017t0022g0002 a0001c0017t0036g0010 a0001c0024t0017g0039 a0005c0012t0005g0072 a0005c0012t0005g0073 a0005c0012t0005g0074 a0005c0014t0005g0092 a0005c0014t0005g0169 a0005c0014t0005g0170 a0006c0022t0020g0031 a0006c0030t0020g0162 a0007c0032t0016g0172 a0008c0033t0001g0171 a0010c0034t0005g0091	21	192	0.1094	-1327	c.393 others(16): Show c.393+667_393+1993del	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	3/5			chr18	TogoVar
BRF1_chr14_105204286_105306001	105231296	CGTGGCAC others(1319): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTC AGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATC TCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGC GGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGG GCGGGGGACAGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAG CATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGG GGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCT AGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCT GGGGGCGGGGGACAGCCTGGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	72	0.0139	-1326	c.695 others(17): Show c.695-3709_695-2384del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
DNAH11_chr7_21538039_21906839	21727194	GAGTGCTG others(1319): Show GAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCTGCATCCTC TTTTTAAAAAATATAACAACTTAATTCTGTAATAACTATAAAATGTAAAG AAATAATAATTTTTCCTAGAAAGTTTGTGAGTTTGTAAAAATTGAAGGCA TATTTCTGTTCAGTGATTGTTATTTCTGAACTTACTGTAAACTTCTTAGT TAGTACTTTTCACGTATAACGTTCTTCTTATACCCTCCAGCTATCAAATG AATATGTTTAATCTCGTCTATTCACGTTTCACAGTCATGTGACAGCTAAT GATCCAAATGAACCTTTCTCTCTTTCTTCACTGTTTCTTTTCATAGATTG CTCTTCTGCATTTCCCTTAGATTCAGGTATTCTTTGATCATCGTATTCTA CCTCAATGTGTTTTCCTTTTCATATTATTTCTTCCTCAAAATCATGTCAT TCTGACTCATTTTGGAGCTTATTATTTTGGGAGTGCTGTATGAGTGGCAT ATAGGTGATTTCTGTGGCATTTATTAGGAGGCAATTAGTGCCAAATAACA GAAAGCCCAGTGCATTCATTTCCTGGAGCTGCCATAACAAAAGACCAAAG ACCAGGTGGCACAAACAATAAAAACGTGTTTTTCTCAAAGTTCTAGAGGC TAGAAGTCCAAGATGGAGACACTGAGGGGTTTTGTTTCTCCTGCAGCCTT TCTCCTCGGTTTGCTGATAGGCATCGCTTGCCGTGACCTCACATAGCCTT TTCTCTGTGCACATTCATGCTCACTGTCTCCCTGTGTGTCTAAATTTCCT CTTCTCCTAAGGACACCAGTCACATTGGATAAGGGCCTAATAGCCTCATT TTAACTTAATTATCTCTTTTATAAGTCCTATTCCCAAATACAGCCACATT CTGAGGTATGAGGGGTTAAGGCTTCAAGAGATGAATTTTGGAGGAGACAT AATTCAGCCTGTAACAATGTGCCGCCTTGACCCCCAAAATTCAAGTCCTG TTAACATACAAAATACATTCACCCATTCCAACAGCCCACAATTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCT GTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCA GCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGATGGG ACTACAGGCAACCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATGCACCCACCTTGGCTTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01070.hp2 HG01099.hp2	a0003 a0004 a0003 a0004	a0003c0010 a0004c0081 a0003c0010 a0004c0081	a0003c0010t0001 a0004c0081t0002 a0003c0010t0001 a0004c0081t0002	a0003c0010t0001g0062 a0004c0081t0002g0061 a0003c0010t0001g0062 a0004c0081t0002g0061	2	298	0.0067	-1326	c.744 others(19): Show c.7440+1217_7440+2542del	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	45/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMOC2_chr6_168436184_168672992	168592550	GCTCCTCC others(1319): Show GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCG CGGAGCTCCTCCTCCTTCCTGAGGCTTCACGGGCATCTTTCTAGAGGATC GCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTA GAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCT AGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGACTCACGGGCGTCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATC TTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGC ATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGG GCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACG GGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCGTCTTTCTAGAGGATCTCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	180	0.0056	-1326	c.638 others(17): Show c.638-6267_638-4942del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
GRAMD4_chr22_46615386_46684785	46615601	GTAGGTTC others(1318): Show GTAGGTTCCCCGTGCGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCG TGTAGGTTCCCCCGTGCGTAGGTTCCCCTGTGCGTAGGTTCCCCTGTGCG TAGGTTCCCCTGTGCGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCG TGTAGGTTCCCCCTTGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCCGTG TGTAGGTTCCCCTGTGCGTGTGGGTTCCCCCATGTGTAAGTTCCCCCGTG TGTAGGTTCCCCTGTGCGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTG CGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTGGGTTCCCCCA TGTGTAAGTTCCCCCCTGTGTAGGTTCCCCTGTGCTTGTGGGTTCCCCCG TGTGTAGGTTCTGCTGTGCGTGTTGGTTCCCCCATGTGTAGGTTCCCCTG TGCGTGTCGGTTCCCCCGTGTGTAGGTTCCCCCAAGCGTGTAGGTTCCCC CTTGTGTAGGTTCCCCTGTGCGTGCAGGTTCCCCTGTGTGTAGGTTCCCC TGTGTGTGTAGGTTCCCCTGTGTGTACGTTCCCCTGTGTGTACGTTCCCC TGTATGTACGTTCCCCTGTGCGTGTAGGTTCCCCTGTGCGTGTAGGTTCC CCCGTGCGTGTAGGTTCCCCCGTGTGTGCAGGTTCCCCTGTGTGTGTGGC TTCCCCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTACG TTCCCCTGTGTGTACGTTCCCCTGTGTGTAGGTTCCCCTGTGCGTGTAGG TTCCCCTGTGCGTGTAGGTTCCCCCGTGAGTAGGTTCCCCTGTGCGTGTA GGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTCGGTTCCCCCGTGTGTA GGTTCCCCCAAGCGTGTAGGTTCCCCCTTGTGTAGGTTCCCCCGTGTGTG CAGGTTCCCCTGTGTGTGCGGCTTCCCCTGTGCGTGCAGGTTCCCCTGTG TGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTACGTTCCCCTGTG TGTACGTTCCCCTGTGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCTGTG CGTGTAGGTTCCCCCGTGCGTGTAGGTTCCCCCGTGTGTGCAGGTTCCCC TGTGTGTGTGGCTTCCCCTGTGCGTGCAGGTTCCCCTGTGTGTAGGTTCC CCTGTGTGTGTAGGTTCCCCTGTGTGTACGTTCCCCTGTGTGTACGTTCC CCTGTGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTAGTTTCC CCCGTGTGTAGGTTCCCCTGTGCGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03130.hp1 NA18522.hp1 HG01433.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0048 a0001c0001t0015 a0001c0001t0048	a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0048g0191 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0048g0191	3	328	0.0092	-1325	c.-50 others(11): Show c.-5013_-3689del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		4784		chr22	TogoVar
P2RX5_chr17_3668227_3701155	3686569	TCCCCCGC others(1318): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACAC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTC CCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACA GCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCT GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTC CCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGA CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCA GCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03041.hp2 others(1): Show HG01891.hp1 HG02572.hp2 HG03041.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0001 a0001c0006t0001 a0002c0002t0001	a0001c0006t0001g0182 a0002c0002t0001g0014 a0002c0002t0001g0304 a0001c0006t0001g0182 a0002c0002t0001g0014 a0002c0002t0001g0304	4	362	0.0111	-1325	c.981 others(16): Show c.981+118_981+1442del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
ASMT_chrX_1610059_1648081	1641029	GTGTGATG others(1317): Show GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA TCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCC CAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACA CAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTG TTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACA GCCTCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCA CCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTGTGAT AAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCA TGAGGACTTGGGCATGGCCTCTATGTGTGTGATGGGGACAGTGTCCCAGT GTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGATGTGGGCACAAC CTCTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTGAGGTCCACCCA TCCGATGGTTCATGAGGACGTGGGCACAGCCTCTGTGTGTAATGGGGATA GCATCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCCCATGAGGATG TGGGCACAGCCTCTGTGTGTGTGTGTGTGATGGGGACGGTGTCCCAGTTC TCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGACATGGGCACAGCC TCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCC ATCTTGATGGTTCATGAGGACTTGGGCACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGGTCCATACATCCTGATGGTCCATGAG GACATGGGCACAACCTCTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	223	0.0045	-1324	c.911 others(16): Show c.911-1772_911-449del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHL3_chr5_137612500_137741089	137686873	AAAAATAT others(1317): Show AAAAATATTACCTCCCTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTGGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCTGGCGAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCG CCCCGTCCGGGAGGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGC GGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAA AGGCGGGAAGGGTGGGGGAAAAATTGAGAAATCGGATGGTTGCCAGGTCT GTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAG AAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAAC CCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTA AGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGC TCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAA CACTTCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAACCAGAGACCTTTG TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTG CCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAT AAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(202): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0006 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0003t0033 a0001c0003t0036 a0001c0004t0005 a0001c0005t0005 a0001c0007t0002 a0001c0009t0004 a0002c0006t0004 a0003c0008t0004	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0048 others(198): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0159 a0001c0001t0003g0072 a0001c0001t0003g0165 a0001c0001t0003g0174 a0001c0001t0003g0196 a0001c0001t0003g0217 a0001c0001t0003g0238 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0123 a0001c0001t0004g0138 a0001c0001t0004g0147 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0233 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0008g0002 a0001c0001t0008g0175 a0001c0001t0008g0211 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0010g0169 a0001c0001t0010g0193 a0001c0001t0010g0209 a0001c0001t0011g0167 a0001c0001t0011g0180 a0001c0001t0011g0230 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0012g0024 a0001c0001t0014g0164 a0001c0001t0014g0182 a0001c0001t0015g0080 a0001c0001t0015g0208 a0001c0001t0017g0017 a0001c0001t0017g0018 a0001c0001t0018g0047 a0001c0001t0018g0088 a0001c0001t0019g0060 a0001c0001t0019g0067 a0001c0001t0020g0007 a0001c0001t0021g0008 a0001c0001t0022g0178 a0001c0001t0023g0037 a0001c0001t0024g0092 a0001c0001t0025g0009 a0001c0001t0026g0016 a0001c0001t0027g0179 a0001c0001t0029g0176 a0001c0001t0030g0116 a0001c0001t0031g0115 a0001c0001t0032g0077 a0001c0001t0035g0206 a0001c0001t0037g0078 a0001c0003t0001g0235 a0001c0003t0002g0001 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0218 a0001c0003t0005g0006 a0001c0003t0005g0096 a0001c0003t0005g0098 a0001c0003t0005g0099 a0001c0003t0005g0223 a0001c0003t0005g0224 a0001c0003t0005g0225 a0001c0003t0005g0226 a0001c0003t0005g0228 a0001c0003t0005g0229 a0001c0003t0005g0237 a0001c0003t0005g0239 a0001c0003t0005g0240 a0001c0003t0005g0241 a0001c0003t0005g0242 a0001c0003t0005g0243 a0001c0003t0006g0105 a0001c0003t0006g0106 a0001c0003t0006g0107 a0001c0003t0006g0108 a0001c0003t0006g0109 a0001c0003t0006g0110 a0001c0003t0006g0187 a0001c0003t0006g0221 a0001c0003t0006g0222 a0001c0003t0006g0232 a0001c0003t0013g0056 a0001c0003t0013g0119 a0001c0003t0013g0201 a0001c0003t0033g0015 a0001c0003t0036g0111 a0001c0004t0005g0234 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0005t0005g0057 a0001c0005t0005g0227 a0001c0007t0002g0091 a0001c0009t0004g0137 a0002c0006t0004g0122 a0003c0008t0004g0038	205	252	0.8135	-1324	c.526 others(17): Show c.526+4088_526+5411del	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
ATP8A2_chr13_25366974_26030851	25450570	CGCCCAGG others(1316): Show CGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAG ACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTA ATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCAC CGCGCCCAGCCCTGACTGGTCTTAAACCCCTGGGCTCAAGTGATCCTCCT GCCTCAGCCTCCCAAAATGCTGAGATTATAGGTTTGAGCCACTGTGCTGG GCCTTGATGTGTTTTTAAAAAATATTTTGTTTGGTGATCATTGAGCTTCT GGACCTTTGGGTTTATGGTTTTCAGCAAATTTGGAAATATTTTTCCACAT TGCTTCTTCAGATATTTATGTCCTTTTCCTCTCTAACCCCTTTTTCCCTT GGGACTCCAATTATGTAATGCATTAGACCCCCATGAGGTTGTCTCGTAGG TCACCGATGCTCTGTTACTATTTTTCTTCTGGTGCTTCTTTTTGGAGAGT TTCTATTGCTGTCTTCAAATTCATGCATCCTTCCCTTTGCAGTGCCTAAT CTGCTATTAATCCCACATAGTGTCGTTTTCATTTCAGGTGTTCTAGTTTC CATTACAAATTCAATTCAGCAAGACTGCAAGGTTTTTGTTTGAGTTCCCC TCTCACTGTGCTTTGGCTCAGAAATCATTTTCAGCTAGAAAGAGAGTGCG ATCCTAGCACTCATTTTGTTTGTTTCTCTTCTCTTGGGGATTGCTTTTCT ATCCTGCCTATTGTTTGATATCAGAAAATAGTTGTTTCCTATCCCTTTTC CTGTTGTCTAGTTGTTAGAGTGGAATGGCTAGTCTATACCTCCTTACACC CTCATGGTCAGAAACAGAAATCCAATTAGTATTTACTTTGTCGATTTGTG TGGTAAGATAATGTCATTTTAATTTCTATTTCCTTGGTAATTGATGTGCA ATTTTTTTTGTCTTTTAAGTTAGCTTAGACTTCGTAGGTTCACTACAGTA CAGGTTGAGGGAGTCAGTTGCTTGGATGTCACCTAACATGGAGTTTTGTT TTGTTTTACAATAGTGAAAAGTCACCCCAGACCAAAACCACAGGTGTCCC ACTGGGTTCAGTTTTCAGAATCTCAATGTAGAGTTTAAAAGGGGAAAAGG TATCCTTTCCTAAAAGCAAATATACCTTCATGGTTTTTTTTTTTTCTTTT TTTGAGATGGAGTCTCACTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0087 a0001c0001t0030g0087	1	122	0.0082	-1323	c.77- others(17): Show c.77-18385_77-17063del	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF516_chr18_76352682_76500242	76393444	CGGGAAGG others(1316): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0254 a0001c0001t0140g0254	1	346	0.0029	-1323	c.181 others(21): Show c.1811-14464_1811-13142del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
DIP2C_chr10_269201_694668	321973	GGGGCTCC others(1315): Show GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACC AGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCG GCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAG TGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGTTG TTAGAACAGTCAGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18970.hp1 NA19007.hp1 NA18747.hp2 NA18970.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0053 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0053	3	88	0.0341	-1322	c.392 others(19): Show c.3924+3711_3924+5032del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
MCM3AP_chr21_46230133_46290611	46237437	CTCTGTTG others(1315): Show CTCTGTTGGCCAGGCCGGAGTGCAGTGTTACAATCTTGGCTCACTGCAAC CTTGACCTCCCAAGCTCAAATGATCTCACCTCAGCCTCCCAAATACCTGG GACTAGAGGCGCATGCCACCCAGCTAATTTTTGTATTTTTTTGTAGAAAC GGGATTTTGCTGTATTGTCAGGCTAGTCTACAACTCCTGAACTCAAGTGA TGTGCACACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACC ACACCCAGCCTTAAGCCTTTGCTTTTTACTAAGAATATAACTAAGTTATG ACATCAACTGAGAAGCAGAAATGTACTTATTAAAAATTTAACAACTTCCT ATGATAAAGCTTAATTTAAAAAAAAAAACTAGGCTGGGCTCGGTGGCTCA TGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAG GTCAGGAGTTCAAGATCAGCCTGATCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCATGGTGACACGTGCCTGTAATCCCAG CTACTTGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCGGGAGGCGGAGG TTGCAGTGAGCCAGATCACGCCATTGCACTCCAGCCAGGGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGAGAAACCACTTCCC TTTAATTTATAAATCCAATTCCAATTTATATTTAATGAAAAAGGTGGTAT TAATCCAAAAACAACTGCTTCGATGTGTTACTTAACATTACTTGTAATTG TCTTGTTTGGCTTATCTTATTTAATTTACTTTGGTTTTATGCATCTATAA TTAATTCTTCTGACATTTTCCAAATGAGTGGATTGCTGCTTATAGCTTAA AATTAACTCAAAATAATATCCCACTGCCACCTAACATACTCTAGAGCTGT CTACTTCCATATACCGGTCTTTTCAAGAAAAACAATCTTGGCCAGGTGCA GTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGAT CACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTGC GTCTCTACTAAAAATACAAAAATCAGCCAGGCATGGTGATGGGTACCTGT AGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGTCGAGATTGTGCCACTGCACTCTAGCCTGGGC AACAGAGCGAGACTCTATCTAATAAAAAGGAAAAAAAAATCTCATCCCAA ACCACTTAAATTATAGAGACTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(131): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp2 NA18985.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0010 a0013 a0014 a0015 a0017 a0018 a0021	a0001c0002 a0001c0004 a0001c0005 others(13): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0027 a0002c0003 a0002c0040 a0005c0010 a0010c0029 a0010c0038 a0013c0037 a0014c0025 a0015c0024 a0017c0028 a0018c0030 a0021c0023	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0002 a0001c0012t0002 a0001c0027t0002 a0002c0003t0001 a0002c0040t0001 a0005c0010t0002 a0010c0029t0002 a0010c0038t0002 a0013c0037t0002 a0014c0025t0002 a0015c0024t0002 a0017c0028t0002 a0018c0030t0002 a0021c0023t0002	a0001c0002t0001g0043 a0001c0002t0002g0004 a0001c0002t0002g0017 others(124): Show a0001c0002t0001g0043 a0001c0002t0002g0004 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0005t0002g0020 a0001c0005t0002g0303 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0002g0309 a0001c0005t0002g0310 a0001c0005t0002g0311 a0001c0005t0002g0312 a0001c0005t0002g0313 a0001c0005t0002g0315 a0001c0005t0002g0316 a0001c0005t0002g0317 a0001c0005t0002g0318 a0001c0005t0002g0319 a0001c0005t0002g0325 a0001c0005t0002g0326 a0001c0005t0002g0327 a0001c0012t0002g0330 a0001c0012t0002g0331 a0001c0012t0002g0333 a0001c0012t0002g0334 a0001c0027t0002g0300 a0002c0003t0001g0227 a0002c0040t0001g0207 a0005c0010t0002g0239 a0005c0010t0002g0240 a0005c0010t0002g0241 a0005c0010t0002g0242 a0010c0029t0002g0246 a0010c0038t0002g0332 a0013c0037t0002g0329 a0014c0025t0002g0254 a0015c0024t0002g0253 a0017c0028t0002g0328 a0018c0030t0002g0267 a0021c0023t0002g0314	134	360	0.3722	-1322	c.563 others(18): Show c.5634-1780_5634-459del	MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	26/27			chr21	TogoVar
PTN_chr7_137222341_137348733	137251591	CATCAATA others(1315): Show CATCAATATACACCATTAATACACACTAATATACACTATTAATATACAGT CCCAATACAACAGTGGGTCATTCTTTATAGTCATGGCCTAGCCACCTTCC TCCTTCCCCACCTCCTTAATCCCCGGCAACTCCTTATCTGTTCTCTAGCT CTATCATTTTTCTAGCTTAAAAATGTTGCATAAATGGAATTCTACAATAT GTAAACTTCTGAGATTGGCTTTTTTATTTAGCATAATTTCCTGAAGATCC ATCCAAGTCATGTGCATCAATAGTCTGTTTCTTCCTATTGCTGAGTAGTA TTCCATGGTCCCAATGTACCCCAGTTTGTTTAACCATTCATCAGCTGAAG GACATCCGAGTTGTTACCAGCCTTGGGTTACTACAAATAGAACTGCTATA TAAATTCATGTATAGGTTTTTGTGGAAACATCAGTTTTCATTTCTCTGAG ATAAATTACCAAGAAACTGCTGTGTTACATGGTAAATGCATGTTTCATTT CGTAAAAAACTGCAATACTCTTTTTCCACTGTGGCTGTACCACCTTACAA TTTCCACTGGCAACATATGAGGGATCTGGTTTCTTGGCACCCTCACTAGC ATTTCGTCTTGTCACTATTTTTTATTCTAGCCACTTTGATAGATGTAGAG TGATATCTCATTATGGTTTCAATTTCTAGTTCCCTAATAAGGAAAAGATG CTGAATATATTTTCAGGAGTTCATTTGTTGCCTATATATCCTCTTTGGTA AAATGTCTGTTAATGTTTTTTCCCCACTTTCTTATTGAACTGTTAGGTTT TGTTTGTTTTGTTTTTTGTTGTTGTTGTTTTGTTGTTTACTGTTGAGTTT GAGAGTTATTTAATATTCTCAATGTAAGTCTTTAAGATATACCTTTTAAA CTTTTTGTAAGTGGGTTTTTAAGGTGCCCATATACAATTTAAGACCAAAT GTACCTGTTCTCCATCACACTTTTATAGAACTTGTCTATATCCATTCAAA TAAAAAATACCCCAAAGATTACAGAGGGAGAAAAAGACATACATGTATAC ATCCATTATCCTTCCTCACTTGTCTATGGGCCACAATGCATTTCCATAGA ACACAGATAGGACATTTCAGGCATCATGTCCCACTATGGCTAAGAAAGAC AAAAAGTCTGGATTGTGGAAGAGGTTATTTGAGGGTTCAATACTGGATAT AAAGTTGAAAGTGTTGAGAGATCCTGTCTCAGATAGATAGATCAGGCCAG CATAAGACTGACTCCAGTCAGTGGGAGAAAGATTTATGAAACGTGGCTGT GAGCAGCCCTGCTGAACTCAGTA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG03041.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0003g0165	6	296	0.0203	-1322	c.289 others(15): Show c.289+551_290-201del	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	3/4			chr7	TogoVar
ZNF57_chr19_2895928_2923473	2909500	TTGACGTC others(1315): Show TTGACGTCGTGATCCGCACGCCTCGGCCTCCCAAAGTGCTAGGATTACAG GCATGAGCCTCTGTGCCTGGCCGGTATCTTGTTTTAATTTGCATTTCCCT GATGACATGATGTGGAGCATTTTTTATATACTCATCTGCCATCTATATCT TCACAGATGAGTTGTCTTAAGGTCTTTAGCCTCCACACCTGGCTAATTTT TTCTTAATTTTAGAAATGGGGTCTCACTGTGTTGCCCAGGGTGATGTGAA ACTCCTGAGCTCAAGCAATCCTCCCACCTTGGCCTCCCAACATGCTGGGA TTACAGGCATGTGCCACCACACCTGGCCTATTTGTACATGCTTTACTCTA CATCGCACTCTCCTGATGACTACAGCTCTCCAGAAAGCCTGGAAAATGCA TAGTGTCAGTCTTCCAACTTGAACCTTCCCCTTCAATACTGTGTTGGTAT TTTGAGTCTTTTACCTCTCCATATAAACTTTACAATCAGTTTGTCAATAT CCACCAAATAACTTGCTGGGATTTTGATTGGGATTGTGTTGAATCTATAG ATCAAGTTGGGAAGAACCAATGTCTTGACAATATTGGGTCTTCTATACGT GGACATGGAATAACTATTCACTTAGTTCTTTGATTTCTTCTGTCAGAGTT TTACAATTTTCCTAAGATCTTGTGCACATTTTGTTAGATTTATACCTGTA TGTTTTATTTTAGGGCAATGCTGATTTAATTCCAGTATTGTCTAAGAGCA TATGATGTACGATATTCTTTTAAACTTGTTAAGGTGTTTTATGTCCCAAA ATACAGTCTAGGTTGAGGAGTGTTCCACGTGAGCTTGACAAGAATGTGTT TTCTGCTGTTGTTGAAGTTGTCTACAGACATTCATCATTGGGGGTGCTGT TGAATTCAACTCTGTGCTTATTGATGTTCCACGTGCTTGATCTGTTTCTT TTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTT TCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCGCCGCC TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACT ACAGGTACTCCCCGCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCATGTTAGCCACGATGGTCTCAATCTCCTGACATCGTGA TCTGCCCGCCTCGGCCTCCCGAAGTGTTGGGGTTACAGGCGTGAGCCAAT GCGCCTGGCCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCCCTGTGT TGGCCAGGATGGTCTCCATCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0011 a0016	a0001c0002 a0001c0003 a0001c0005 others(8): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0003c0004 a0006c0008 a0007c0009 a0008c0010 a0010c0014 a0011c0013 a0016c0020	a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 others(10): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0002c0001t0001 a0002c0001t0006 a0003c0004t0001 a0003c0004t0002 a0006c0008t0001 a0007c0009t0001 a0008c0010t0001 a0010c0014t0001 a0011c0013t0001 a0016c0020t0009	a0001c0002t0001g0055 a0001c0002t0001g0180 a0001c0002t0001g0277 others(150): Show a0001c0002t0001g0055 a0001c0002t0001g0180 a0001c0002t0001g0277 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0003t0001g0134 a0001c0005t0002g0093 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0110 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0118 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0135 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0212 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0280 a0002c0001t0001g0282 a0002c0001t0006g0002 a0003c0004t0001g0007 a0003c0004t0001g0008 a0003c0004t0001g0009 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0123 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0161 a0003c0004t0001g0288 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0002g0026 a0003c0004t0002g0086 a0006c0008t0001g0209 a0006c0008t0001g0210 a0006c0008t0001g0211 a0007c0009t0001g0276 a0007c0009t0001g0278 a0007c0009t0001g0279 a0008c0010t0001g0151 a0008c0010t0001g0152 a0010c0014t0001g0145 a0011c0013t0001g0032 a0016c0020t0009g0056	212	398	0.5327	-1322	c.4-6 others(13): Show c.4-6005_4-4684del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
IKBIP_chr12_98619249_98649788	98622861	TAAGCAAA others(1314): Show TAAGCAAAATTTAAGGCAATATTACATTTAAAAATTATATATTCAAAAGT TTAAAAATAATTAGGTGCTTGTATTGTAAAAGTGATTTATTCCTGTTAAC ATTAAAAAAATTGATCCAGTACTTTTACTTTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCAGGCTGTAGTGCAATGGCGTGATTTTGGCTCACTGCAA CCTCTGCCTCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGGCGCCTGCTACCATGCCCGGCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCT CAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTG AGCCACTGCGCCCAGCTGATCCAGTACTGTTATGCTTTTGAGACAGGGTC TTGCTCTGTCACCCAGGCTGGGAATGCAATGGTGCAGGTCACTGCAACCT TGAACACCTGGGCTCAGCCTCCTGCGTCGCTAGGACTACAGGGATGCGCT TTTTTTTGACTTTTAGTAGACATGAGGTCTCACCATGTTATCCAGGCTGG TCTTGAACTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAGAGTG TTGGAATTATAGGAGTGAGCCATTGTGCCTGGCCTTACTCCTCCTTACAC TTTTTTTTTTTTTTTTTTTTTTTTTGTAGGGACGAGGTCTCACTATGTTA CCCAGGCTGTCTCAAACTCCTGGGCTTAAGCCACTCTGCCTCAGCCTCCC AAAGTATTGGGATTACAAGTATGAGGCACTGTGCCTGGCCACTTTATAAG AAATTAATTGACATAAAATTTATTATCAGTTACAAAGATACAAAAATGTG TTTTAGGATATTGGTAATTTTCCCTAAAGAAAAGACTAACAATGTAATTT AATATTTGATACACAGGAAAGTTTTTGAAATTTTAAGCATCTGTGTTAAA TAAATGAATGGAAGAAAGAGAGAAAGACAAATTAAGTACATCTAAATCTC TCTAATAATTTCTTAATAGGAAAACCTCTTCATAAATACAGGATATATCT ATCTAGATATCTATACATACATACAAACGCATATATACTTTAATAGTTTT CTCATGTTATACTTGTAGAAGTGCAGTTTTCTTCCTTTCCCTTGTGTCAT TATAGAGAACAGTAGCCACCTTGTTTCCATTTACTTTCAGTAACCATTAC CATGGTATATATAAGTTCATAATAACCTCATATTAAATGTGGTGATCGGT GAGAAAAAAATATTTAAACGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02257.hp2 HG02630.hp1 others(5): Show HG00735.hp2 HG02257.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0015 a0002c0002t0002g0139 a0002c0002t0002g0140 others(4): Show a0002c0002t0002g0015 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0011g0143	8	414	0.0193	-1321	c.17 others(11): Show c.1748_*3068del	IKBIP	ENSG00000166130.15	transcript	ENST00000299157.5	protein_coding		1387		chr12	TogoVar
TJP3_chr19_3703384_3755813	3716045	CTGGGATT others(1314): Show CTGGGATTACAGGCGTGAGCCACCACGCCCGACTTGTTTTATTTTTGAGA TGGAGTCTTGCTCCATTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGA TCACTGCGACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCGAGTAGCAGGGATTACAGGTGCCTGTCACTACGCCCAGCTAATTTCT GTATTTTGAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGCTCTCGA ACTATTGACCTCAAGTGATCCGCCCATCTCAGCCTCTCAAAGTGCTGGAA TTACAGGTGTGAGTCACCGCGCTCGGCCTGGTATTGAACACCAAAATGTC TCAAGACGTTGCCAAGGGTCCCCCTCTGGTGAGAGGCACTGGCTTGGAGT TCGAGGTGCAGGGGCAAACAGAGCTGCAGCCAAATCCCTCAGGCCAGCTC ACCATCTGGCCTCAGTTTTCTCAGCTGCAAAGTGGGCGCACGAGTGTTGT GTGTAACTGGGGCTGCAGCCAAGCATATGCCAGTAAACATGGCCCGGGAG CCCCATTCACTGCTAGGACTTTAACCCACTTATTTCTTTATTTATTTTTG AGACAGCGTCTAGCTCTGTCACCCAGGCTGGAGTGCAAGGGCAAGATCAT GGATCACTGCAGCCTCGACCTCCTGGGCTCAAATGATCCTCCCACTTCAG CGCCTAGAGGTGCCTGCTACCACACCCAGCTCATACATATATATATATAT ATATATATTTTTTTTTTTTTTTTGAAACAGAGTCTCAGTCTGTCGCCCAG GTTGGAGACAGTGGCACGATCTCGGCTCACTGCACCCTCTGCCTCCCAGG TTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCG GGTGCCAACACGCCCAGGTGACTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCCCGATTTCGGCTCACTGC AACCTCCGCCTCCCGGGCTCAAGCAATTCTCTTGCCTCAGCCTCTCTAGT AGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTATTTTT AGTAGAGACGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAA CCTCAGGTGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGC ACGAGCCACCACGCCTGGCCCATGACTGTTATATTTTTAGTACAGACAGA GTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATT CGGCCGCCTTGGCCATCCAAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00621.hp2 others(27): Show HG00099.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02083.hp2 HG02683.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18966.hp2 NA18998.hp2 NA19056.hp2 NA19070.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0011 a0018	a0001c0002 a0001c0005 a0001c0009 others(12): Show a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0015 a0002c0001 a0002c0006 a0003c0003 a0003c0004 a0003c0026 a0004c0007 a0004c0023 a0009c0025 a0011c0033 a0018c0043	a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 others(12): Show a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001 a0001c0015t0001 a0002c0001t0002 a0002c0006t0002 a0003c0003t0001 a0003c0004t0001 a0003c0026t0001 a0004c0007t0002 a0004c0023t0002 a0009c0025t0001 a0011c0033t0001 a0018c0043t0005	a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0319 others(27): Show a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0319 a0001c0002t0001g0359 a0001c0002t0001g0382 a0001c0005t0001g0151 a0001c0005t0001g0313 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0009t0001g0300 a0001c0011t0001g0303 a0001c0015t0001g0310 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0006t0002g0148 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0004t0001g0304 a0003c0004t0001g0311 a0003c0004t0001g0312 a0003c0004t0001g0318 a0003c0004t0001g0392 a0003c0026t0001g0307 a0004c0007t0002g0150 a0004c0023t0002g0314 a0004c0023t0002g0320 a0009c0025t0001g0305 a0011c0033t0001g0306 a0018c0043t0005g0375	30	398	0.0754	-1321	c.-10 others(17): Show c.-10+7507_-10+8827del	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(1313): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCC AAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCC CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 NA21309.hp2 HG03041.hp2 HG03209.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0009 a0003c0005 a0001c0001 a0002c0009 a0003c0005	a0001c0001t0005 a0002c0009t0008 a0003c0005t0003 a0001c0001t0005 a0002c0009t0008 a0003c0005t0003	a0001c0001t0005g0009 a0002c0009t0008g0235 a0003c0005t0003g0127 a0001c0001t0005g0009 a0002c0009t0008g0235 a0003c0005t0003g0127	3	236	0.0127	-1320	c.362 others(19): Show c.362-89247_362-87928del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15932509	GGAATGAG others(1313): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTG AGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0179 a0004c0007t0179	a0004c0007t0179g0211 a0004c0007t0179g0211	1	386	0.0026	-1320	c.198 others(16): Show c.198+382_198+1701del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
KNDC1_chr10_133155219_133231412	133222539	GTGTGTGT others(1313): Show GTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTGTGT GAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGA GCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGAGAGCCCATCC AGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGAGCCCATCCAGGC ATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCCA GTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGT GTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGA GAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCC ATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGC ATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGT GTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGTGTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTCTTCTCGGCATGTGTGTGTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTGTTCCCGGCGTGTGTGTGTGTGTGTGA GAGCCCATCCAGGCATGCTCTTCTCGGCGTGTGTGTGTCTGTGAGAGCCC ATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTGAGAGCCCATCCAGGC ATGCTCTTCCCGGCATGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCGTGTGTGTGCATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCC CGGCGTGTGTGTGCGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCG GCGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGT GTCTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGT GTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGA GCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCAT CCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG02976.hp1 NA19030.hp1	a0010 a0010	a0010c0020 a0010c0025 a0010c0020 a0010c0025	a0010c0020t0002 a0010c0025t0002 a0010c0020t0002 a0010c0025t0002	a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 others(1): Show a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 a0010c0025t0002g0243	4	332	0.0121	-1320	c.501 others(18): Show c.5019-2109_5019-790del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS57_chr19_680546_700452	698616	GGAGATGG others(1312): Show GGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCT CGTGATCCGCCCGCCTTGGCCTCCGAAAATGCTGGGATTACAGGCATGAG CCACTGCGCCCGGCCCTGTTTTTATCTTTTAGAGACAGGGTCTCCTTCTG TCGCCCAGGCTGGAGTGCAGTGGTTTGATCTCGGCTCACTGCATCCTCTG CCTCCTGAGTTCAAGCGATCCTACTGCCTTAGCCTCCCAAGTAGGTGGGA TTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTGTTTTTTTGTTTT GTTTTGTTTTATTTGTTTGGTAGAGATGGGTTTTGCCATATTGCCCAGGC TGGTCTCAAACTCCTGAGCTCAAGTGATCGGCCTGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCATCGCACCCGGCTGTCCGTCAATATT GTCAAACGACTGGACAGCAGGCACTCTGGTCTCCACGGTCGTCGCGTCAG CACGAGTGGGTCCCCTGGACTTGCTCCTACCTCCCCTGCTGCCCTCCGTC GCGGAGCACTGAGGCAGAGACCTGGAAAACGTCCCCAGCTCCACGGGCGT TAGAAGGAGAATTGCCCGAAGCTGCAGGCGTGTGGAACTTTGTTCCCTCA CGATGCTGTCCCTGTCCCGGTCGCTGATGGGGACACAGTAGGGAGAGGGT AAGCGCCTTAGCCCTGCCACACAGTGAGGAGCCAGGGGGCCGGGGCTGCT GCCTCAGAGGAGCTCCCACTGCCTCTCGGGACCGATTCTATCCAGAGCTG GGCCATTTCCTTCCCTTTTGGTGAACAGTTGTGAAATAAACAACCGTCCT CCAGCGTCTCAGAAAACCGAGCTCCTGGCAGCCCTGAGGAGGGGGCTGAG TGGGGGTCACTGTTCCCACTTCCCAAACTGAGGCCCAGAGAGGGGAGCCG ATTTGTCTGGGGCCACACAGCACAGGGTCTTGACCCATGAGCCGCTGGAC TGCGATTCTCCTGGAGGGTCTCTCCATGGCAGATCTGAGCGGCTCTTCAG GAGCTCAGACACCAGCCACTGCAGGGAGTCAACAGCAATGGTGACAACAG CTTCCTTTATTGTATTTAATTTTACATTTTTATTTTATTTATTTTGTTTT TTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGGCACCA TCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTC TCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCT AATTTTTTGTATTTTTAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18966.hp1 NA18948.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	442	0.0045	-1319	c.-45 others(11): Show c.-4505_-3187del	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		3165		chr19	TogoVar
SIK3_chr11_116838402_117103428	116865114	GAAGCATT others(1312): Show GAAGCATTTCCTTATAACTTGTCATTTCTGTTTCTACTTCAGGTTGAAGT AGAAGCAAGTAAGTACTATTTTCTCCTAAAATTTGATTCCTATGCTTTCA ATGTTTTCTGAAATGGACATGTTTCTGATCCCCTCAGAAAGCCATGTTCT TCAAGTAGCAATACAGTCTTTCTGCACAAAAATAATTCTCTCCCATCACA GAAAATCCCAGGTCCAGGTATTTCATGACTTTTTCAGAAGCTCAGGTTGT GAAGAGACTGATACCCAGGTCAGTCCAGCACAGTAACCTCAGAGGAACGG TTCTGATGCAGTTGCTCATTTGAGAAGCACTGATAAGTATCAATTGTGCT TGATTTTATTTTTATTTGCAATCACACTCAAATTCAGGATGGCCTCGCAT TAGGCTGATACTCCCACACTATACTCTTCAAGGAGGGACTTGGTTTCCCA CCTGGATAAAATCTATCTTGTGTTAGTTTAAAAAAATTTTTTAGTTACAC TTTTTAAAACATTTTTAACCTTAAATTACACATTTCCAGAAATGAAAAGG TTGATTAGACCACTCTTCTGTTTCCATGTTGAACTTCATCTCTTCTACCC CAGAAGGATAGCTATATATACTGTTCTTTAATCATTTCCTCCAGAAAATG AAAGGAATTCAAGAACCCATGCAGGCCACCCGTATTCCATGTTTTATAGC CTTGGAAAGTTTCTCATTTCCCCTGAAGACTGGCTTTAATCTCTTTTGCT GCATATTTGTATAGTGATCCCATCAAGACATGCTGGGTTTGCACAAATGC CCCATCTTATGCAATTTGCCACTCATAAAACATCATTTTCTTCCAATTCA AATAGGCTTGGCCACAGGCAACCCTCAAAACACCAAAAAGGTTCACATGA AAACAGACAGCAGATAGATTTCCAGCAGGCAAGGCCTTGACAATGACTCT AGGCAGGGTGGATATCACACAGACAGAGCTGTGGTCCAGTGTGGACCTCC TTGAGTAACAAATGTCAACAGAATATAGGGTCTGTGATAAAGCCTGACTC TGGAAATGTGACGATCTTCATGTTCCCCTCATAAGAAGACCTCCTGAGGA ACACCTAGCATTCAACAAGGATACCTAAAGGACTTCAGCTAAACAACAGA CTCAGACAAGGGCTGAAACATTAAGTGTCAGGCTGTGGAGGAAGGGAAGA AGGAGACAAGGAGAAAAGAAGGAATAAAGGGTGTATTAGATACCAGTGTA GAGCTTGAAGTTATGAGAAATCACAGGAAACGTATAGGGGAGGAGAAGGC AGGTCTCCAGTAATCACTCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0001t0001g0215 a0001c0001t0001g0254	2	366	0.0055	-1319	c.195 others(19): Show c.1952+1513_1953-1297del	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	15/24			chr11	TogoVar
ASMT_chrX_1610059_1648081	1638941	ACATGAGG others(1311): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGAT GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGG TCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	223	0.0045	-1318	c.910 others(17): Show c.910+2450_911-2476del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
BRSK2_chr11_1384934_1467689	1431818	GTCTGGTC others(1311): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCCTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	360	0.0028	-1318	c.92- others(15): Show c.92-4221_92-2904del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
MYT1L_chr2_1784113_2336275	2034291	TAATCTCC others(1311): Show TAATCTCCACCCTCCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAA GAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGT GCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATG CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTC CAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACC CTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCC ACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATC TCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACC ATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCA CAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCC CAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCTAACT TCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG03471.hp2 HG01109.hp1 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 a0001c0002 a0001c0003 a0001c0012	a0001c0002t0001 a0001c0003t0001 a0001c0012t0014 a0001c0002t0001 a0001c0003t0001 a0001c0012t0014	a0001c0002t0001g0089 a0001c0003t0001g0067 a0001c0012t0014g0004 a0001c0002t0001g0089 a0001c0003t0001g0067 a0001c0012t0014g0004	3	104	0.0289	-1318	c.-15 others(21): Show c.-158+18369_-158+19686del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
UNKL_chr16_1358205_1419704	1372833	GCACAGGG others(1311): Show GCACAGGGACTGCCGGCCTACACTGCACAGAGACCTCAGCAGCGTGGAGC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGGGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTC AGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAG ACCTCAGCAGCATGGAACACACCACACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCAC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCAC ACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG GGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGC CTACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCAC ACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG AGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGGGCACACCA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	322	0.0031	-1318	c.126 others(19): Show c.1265-2540_1265-1223del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1372851	TACACTGC others(1311): Show TACACTGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGC CGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGG ACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACA CAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCACACC ACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGGAAC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCAT GGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACC GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGC ACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACC ACACAGGGACTGCCGGCCA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	322	0.0031	-1318	c.126 others(19): Show c.1265-2558_1265-1241del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
ATP6V0E1_chr5_172978771_173040445	172979059	GGTGGCTC others(1310): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACAAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGCTGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGA GGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGA GACAGAGCGAGACTCCATCTCAAAAAACAACAACAACAACAACAGAGTTA CATCCCTGGCCGGGTGCGGTGGCTGACCCCTGTAATCCCAGCACTTTGGG AAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG CCAACATGGCAAAACCCCATCTCTACTAAAAAATAAAAATAAAAATAAAA ATTAGCTGGGCATGTAGCACGTGCCTGTAATCCCAGCTACTCAGAAGGCT GAGGCAGAAGAATCACTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCTGG GATCGTGCCATTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCTGTCTC AAAAAAAAAGGAAAAAAAAAAAAAAGAGTTACATCCTTGTACTTCCAGAC ATTGCTTCTCAAAGAGGCTGCCCAGAAGATAAAGCAAAGGTTAGACACAA AAAGGGATCAATTTAAGACAAAAATTTCCACTTGTTTAAGAAATGGGAAA GAATTCACAATAGCCAAAAAGTGCAAGCAACCCAAATGTCCATCGATGGA TGAATGGATAAACAAAACGTACTGTATACACACATGGAATATTATTCAGC CTTTAAAAGGAAGGGGACATTCTGACACTTGCACAACATGGATGAGTCTT GAGGATATTATGTTAAGTGAATAAGCCAGCCACAAAAGGACAAATGCCGT ATGATTCCTCTTGAAGGAATCTAGAGTAGTCAAACTCACAGAGACAGAAA GTAGAATGGTGCTTGCCATGGGCTAGGGGGTGGAATATGGGAGGTGGTTG TTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTTGCTTTATCACCAGGC TGGAGTGCAGTGGCGTGATCACAGCTTACTGCAGCCTTTACCTCCTGGGC TCAAGCAATCCTCCCACCTCACCCTCCGCAGCAGCTGGAACTACAGGCAT GCACCATCATGCCCAGCTAATTTTTTGTTTAAATTTTTTGTAGAGATGGG GGTCTCACTACTGCACCTGGCCAGAAGTGGTTGTTGAAGGGATATGAAAA AGTTCTGGGCTGGGTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19091.hp1 NA18975.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0057 a0001c0001t0001g0083	2	292	0.0069	-1317	c.-48 others(11): Show c.-4801_-3485del	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding		4711		chr5	TogoVar
DHRSX_chrX_2214506_2505976	2278795	AGAGAGAG others(1310): Show AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGA AAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	50	0.0200	-1317	c.388 others(19): Show c.388+11390_389-11849del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2278815	AGAGGGAG others(1310): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGG GGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA GGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGA AAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0013	1	50	0.0200	-1317	c.388 others(19): Show c.388+11370_389-11869del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
ASMT_chrX_1610059_1648081	1637186	GTCCTGTG others(1309): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0003t0001g0171 a0002c0002t0001g0074 a0001c0001t0001g0006 a0001c0003t0001g0171 a0002c0002t0001g0074	3	223	0.0135	-1316	c.910 others(16): Show c.910+669_910+1984del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
TF_chr3_133741393_133801641	133784922	TAACAATA others(1309): Show TAACAATACTATTTTTTAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGA CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCC AGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCC AGTGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGA GTGGGGGGTCAGCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCCACCACCCGGTCTGGGAGGTGTGCCCAACAG CTCATTGAGAACGGGCCAGGATGACAATGGCGGCCTTGTGGAATAGAAAG GCGGGAAAGGCGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGT GTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAA AAATTCCTCTGTCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCGCCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAAT TAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(126): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0022 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0225 a0001c0001t0227 a0001c0001t0228 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0236 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0247 a0001c0001t0250 a0001c0001t0251 a0001c0001t0254 a0001c0001t0255 a0001c0001t0256 a0001c0001t0257 a0001c0001t0258 a0001c0001t0259 a0001c0001t0263 a0001c0003t0007 a0001c0003t0011 a0001c0003t0055 a0001c0003t0057 a0001c0003t0122 a0001c0003t0123 a0001c0003t0124 a0001c0003t0125 a0001c0003t0126 a0001c0003t0224 a0001c0003t0237 a0001c0003t0248 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0020 a0001c0004t0053 a0001c0004t0170 a0001c0004t0171 a0002c0022t0101 a0003c0008t0209	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(107): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0232 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0183 a0001c0001t0005g0003 a0001c0001t0005g0020 a0001c0001t0005g0034 a0001c0001t0005g0252 a0001c0001t0006g0002 a0001c0001t0006g0012 a0001c0001t0006g0077 a0001c0001t0006g0093 a0001c0001t0008g0003 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0011g0003 a0001c0001t0011g0020 a0001c0001t0026g0246 a0001c0001t0026g0247 a0001c0001t0026g0253 a0001c0001t0050g0002 a0001c0001t0050g0251 a0001c0001t0051g0083 a0001c0001t0051g0085 a0001c0001t0052g0076 a0001c0001t0052g0086 a0001c0001t0053g0002 a0001c0001t0054g0038 a0001c0001t0055g0101 a0001c0001t0057g0102 a0001c0001t0058g0244 a0001c0001t0058g0245 a0001c0001t0215g0021 a0001c0001t0216g0105 a0001c0001t0217g0021 a0001c0001t0218g0021 a0001c0001t0219g0104 a0001c0001t0220g0002 a0001c0001t0221g0074 a0001c0001t0222g0002 a0001c0001t0223g0072 a0001c0001t0225g0002 a0001c0001t0227g0002 a0001c0001t0228g0005 a0001c0001t0229g0005 a0001c0001t0230g0034 a0001c0001t0231g0210 a0001c0001t0232g0098 a0001c0001t0233g0080 a0001c0001t0234g0002 a0001c0001t0235g0003 a0001c0001t0236g0100 a0001c0001t0238g0067 a0001c0001t0239g0091 a0001c0001t0240g0014 a0001c0001t0241g0014 a0001c0001t0242g0099 a0001c0001t0243g0052 a0001c0001t0244g0215 a0001c0001t0245g0054 a0001c0001t0246g0002 a0001c0001t0247g0002 a0001c0001t0250g0073 a0001c0001t0251g0002 a0001c0001t0254g0003 a0001c0001t0255g0033 a0001c0001t0256g0106 a0001c0001t0257g0002 a0001c0001t0258g0249 a0001c0001t0259g0082 a0001c0001t0263g0248 a0001c0003t0007g0015 a0001c0003t0007g0043 a0001c0003t0007g0176 a0001c0003t0011g0047 a0001c0003t0055g0047 a0001c0003t0057g0109 a0001c0003t0122g0171 a0001c0003t0123g0115 a0001c0003t0124g0156 a0001c0003t0125g0157 a0001c0003t0126g0015 a0001c0003t0224g0217 a0001c0003t0237g0240 a0001c0003t0248g0208 a0001c0004t0001g0016 a0001c0004t0001g0202 a0001c0004t0002g0214 a0001c0004t0005g0016 a0001c0004t0006g0206 a0001c0004t0008g0016 a0001c0004t0008g0207 a0001c0004t0020g0001 a0001c0004t0020g0186 a0001c0004t0053g0016 a0001c0004t0170g0001 a0001c0004t0171g0189 a0002c0022t0101g0143 a0003c0008t0209g0026	129	402	0.3209	-1316	c.63 others(11): Show c.6319_*7634del	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17	6319	INFO_REALIGN_3_PRIME	chr3	TogoVar
TRIP13_chr5_887884_923120	898536	GTCAGTGT others(1309): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGT GGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTT CATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAG GCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTT GGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCA TTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0214 a0001c0005t0002g0214	1	402	0.0025	-1316	c.388 others(16): Show c.388+1847_389-538del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASMT_chrX_1610059_1648081	1639446	CGTGGGCA others(1308): Show CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	223	0.0045	-1315	c.910 others(17): Show c.910+2906_911-2023del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNOT10_chr3_32680188_32778875	32765254	GTTGCAGT others(1308): Show GTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGGGCAACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAGATGTTTAAATTTCAAATCAGCA GAATAAAAAGCAACTTGGGGCCGGGCACAGTGGCTCACATCTGTAATCCC ACACTCTGGGAGGCTGAGACAGGCAGATCACTTGAGTCCAGGGGTTTGAG ACCAGCCTGGGCAACATAATGAGACCCTGTCTCTACTAAAAATACCAAAA ATTAGCCAGGCATGGTGGTGCATTCCTGTAGTCCCAGATACTTAGGAGAC AGAGGTAGGAGGATTACCTGAGCCTGGGAGGTTGAGGCTGTAGTCAGCCA AGATCATGCCACTGCACTCCAGCCTGGGCAACTGGAGTGAGACCCTGTCC CCCCAAAAAAAAAAGACAAAAGAAGTAAGTTGACAGTTTTAATTATTAAA ATTCCAAAAGATGGAAAACTGTCTAAAAGATCACTTATATAAATAATAGT GCATCTGTACAGTTGAAGACAATGCAGCTATAAACTCTAGGTACTAAAAT GGAAAGATGTCCAAGACATACTAAATGAAAACAGCAAGGTGTGAAACAGT TTCTGTATAACCCTGTATACATGCATAAAAGATCTCTGAAAGGACACACC AAGAAACTGCAAACATTAGTTGTTGGGGTGGCAGGACGAATACTACATGG CTGGAGCAGTAGAATGGGAGACTTTTCACTGTATACTGTTATGCTTTTAA TTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACT GGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTT CAAACACTTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTACAGGCATG TACCACCACGCCCGGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTC CATGTTGAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGGTGC TTTTAAATTTTGAATTGTGTAAATCTTTTTTCAAAATGTGAATTATAGGC CAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGT GGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGA AACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAT GTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGCAGGAGAATGGCATGA ACCCGGGAGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(256): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0353 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0352 a0001c0001t0004g0192 a0001c0003t0001g0145 a0002c0002t0001g0214 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0003c0005t0001g0286	259	354	0.7316	-1315	c.200 others(18): Show c.2004+463_2004+1777del	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
FOXP4_chr6_41541381_41607384	41595312	TGCCAGCC others(1308): Show TGCCAGCCAACGGGCCATGGGTGAGGGGCTGCCACCCCCAGGGCACCCGC TCTCTCAGCTCATCAGGATGACTAGACCTCTGAGGTCCCGCGACCCCACC AATTCATCTTACGGCAGAGGAGAGCCAGTGAGGGCCAGGGGCTGGCAGGA GGCCCCAGAGCAGATTTGTGGCAGAGCTGGTTCCAGGACCAGGTCTCTGC CCTCCTGGTCTTTTGTGCTCAGCTTCACTTCACCACCTGGCATTTTATTT ATTTACTTATTTATTTATTATTTTTTTAATTTTATTATTTTATTCATTTA TTTTTTTTGAGAAGGAGTTTTGTTCTTGTTGCCCAGGCTAGAGTGCAATG GCACGATCTCAGCTCACTGGAACCTCCACTTCCCGGGTTCAAGCAATTCT CCTGCCCCAGCCTTTCGGGTAGCTAGAATTACAGGTGCCCACGACCACGC CCGGCTAATTTTTTTTGTATTTAGTAGAAATGTGGTTTCACCACGTTGGT CAGGCTGGTCTCGAATTCCCAACTTCAGGTGATCCACCTGCCTTGGCCTC CCAAAGTGCTAGGATTATAGGCGTGCACCAGCGCACCTGGCCTATTATTT TTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACG ATTTTGGCTCACTGCAACCTCCACCTTGTGGGTTCAAGCGATTCTCCTGC CTTAGCCTCCCGAGAAGCTGAAATTACAGGCGCCCACCACCACACCCAGC TAATTATTTTACTTTTGGTAGAGACGGGGTTTCACCCTGTTGACCAGGCT GATCTCGAACTCCTGACCTCAGGTGATCTGCCCGCATCGGCCTCCCAAAA TGCTGGGATTACAGGCGTGAGCTACCGCACCTAGCCTCCACCTGGCAGTT TAAACAGAAACTGAGGAGCCTGGGACAGGGTCAGGACCTCCCTTTGGCTT CCACGTAGCAGCAGTGGCCTTCTCCCGACCTCAAACAGCCCCACCCCAGC CACCTGCTTGCTGTGCCCCTTGGGCCAGAGCCCCTGGGTAAGGAGAGGAG AGCAAGTTAGATGGATGTCTCTGAGGTGTGGGGTGTCTGCTCCCCTCAAA GATGCCTGCTTACCAGGCAGGAGCCTTTGCACCCCAGGCAGTGTGCAGCC TGGAGAATGGAGGGAAGCCATCCCCTGGTGAATGCCTAGGGGCCAGTCTC CAGGCCTGGCTGCGCTTGCACCTCTGCTTCTCACCAGTTTGGTGACCTTT GGCTGTTTCCTTAAGCTCTGTGAGAGCTCTGTGATGGTGTCATCACTGGA AGAGGGACAGCCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0056 a0001c0002t0045g0056	1	356	0.0028	-1315	c.165 others(17): Show c.1658+326_1659-545del	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOC4L_chr12_132139457_132157468	132149094	TACCACAC others(1308): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	294	0.0034	-1315	c.901 others(15): Show c.901+238_902-534del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	CACCACAC others(1308): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	294	0.0034	-1315	c.901 others(15): Show c.901+555_902-217del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNER_chr2_229352629_229719555	229563120	CTCCTCCT others(1307): Show CTCCTCCTCATCCCATCACCATCATCATCCTCCTCACCCCATCACCATCA TCATCAACATCATCACACCATCACCATCATCATCCTCCTCCTCATCCCAT CACCATCATCATCCTCCTCACCCCATCACCATCATCATCAACATCATCAC ACCATCACCATCATCATCCTCCTCCTCATCCCATCACCATCATCATCAAC ATCATCACACCATGACCATCATCATCATCCTCCTTACCCCATCACCATCA TCATCATCCTCACCCCATCACCATCATCATCATCACCCCATCGCCATCAT CATCATCATCCTCACCCCATCACCATCATCATCTTCATCATCACCCCATC GCCATTATCATCATCATCCTCACCCCATCATCATCATCAACATCATCATC CCATCACCATCATCGTCATCACCCCATCACCATCATCGTCATCATCCTCA CCCCATTGCCATCATCATTAACATCATCACCCCATCACCATCATCATCAT CACCCCATCACCAACATCATCAACATCATCATCACCCCATCACCATCATC ATCAACATTATCACCCCATCACCGTCATCATCATCCTCCTCACCCCATCA CCATCATCATCATCACCCCATCACCATCATCATCATCCTCCTCACCCCAT CTCCATCATCATCAACATCATCACCCCATCACCATCAACATCATCACCCC ATCACCATCATCATCATCACCCCACCACCGTCATCATCATCCTCCTCACC CCTTCACCATCATCGTCATCACCCCATCACCATCATCATCATCCTCCTTA CCCCATCACCATTATCATCATCCTCACCCCATCACCATCATCATCCTCAT CCCATCACCATCATCATCATCATCATCCTCACCCCATCACCATCATCATC ATCCTCACCCCATCACCATCATCATCAACACCATCACCCCATCACCATCA TCATCATCCTCACCCCATCACCATCATCATCAACATCATCACCCCATCAC CATCATCATCATCCTCACCCCATCACCATCATCATCAACATCATCACCCC ATCAACATCATCATCAGCATCATCACCCCACCACTATCATCATCATCCTC CTCACCTCATCTCCATCATCAACATCATGACAGCATCACCATCATCATCA TCCTCCTCACCCCATCACCATCATCATCCTCCTCACCCCATCACCATCAT CATCTTCCTCACCCCATCACCATCATCATCATCATCCTCACCCCATCACC ATCATCATCATCATCACCCCATCACCATCATCATCAACATCATCACACCA TCACCATCATCATCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp2 HG03471.hp1 others(1): Show HG02818.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0151 a0001c0002t0001g0166 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0168	4	176	0.0227	-1314	c.848 others(19): Show c.848-17342_848-16029del	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
ZNF57_chr19_2895928_2923473	2909454	GTATTTTT others(1307): Show GTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTTGA CGTCGTGATCCGCACGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCAT GAGCCTCTGTGCCTGGCCGGTATCTTGTTTTAATTTGCATTTCCCTGATG ACATGATGTGGAGCATTTTTTATATACTCATCTGCCATCTATATCTTCAC AGATGAGTTGTCTTAAGGTCTTTAGCCTCCACACCTGGCTAATTTTTTCT TAATTTTAGAAATGGGGTCTCACTGTGTTGCCCAGGGTGATGTGAAACTC CTGAGCTCAAGCAATCCTCCCACCTTGGCCTCCCAACATGCTGGGATTAC AGGCATGTGCCACCACACCTGGCCTATTTGTACATGCTTTACTCTACATC GCACTCTCCTGATGACTACAGCTCTCCAGAAAGCCTGGAAAATGCATAGT GTCAGTCTTCCAACTTGAACCTTCCCCTTCAATACTGTGTTGGTATTTTG AGTCTTTTACCTCTCCATATAAACTTTACAATCAGTTTGTCAATATCCAC CAAATAACTTGCTGGGATTTTGATTGGGATTGTGTTGAATCTATAGATCA AGTTGGGAAGAACCAATGTCTTGACAATATTGGGTCTTCTATACGTGGAC ATGGAATAACTATTCACTTAGTTCTTTGATTTCTTCTGTCAGAGTTTTAC AATTTTCCTAAGATCTTGTGCACATTTTGTTAGATTTATACCTGTATGTT TTATTTTAGGGCAATGCTGATTTAATTCCAGTATTGTCTAAGAGCATATG ATGTACGATATTCTTTTAAACTTGTTAAGGTGTTTTATGTCCCAAAATAC AGTCTAGGTTGAGGAGTGTTCCACGTGAGCTTGACAAGAATGTGTTTTCT GCTGTTGTTGAAGTTGTCTACAGACATTCATCATTGGGGGTGCTGTTGAA TTCAACTCTGTGCTTATTGATGTTCCACGTGCTTGATCTGTTTCTTTTCT TTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTCCC AGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCGCCGCCTCCT GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAG GTACTCCCCGCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACCATGTTAGCCACGATGGTCTCAATCTCCTGACATCGTGATCTG CCCGCCTCGGCCTCCCGAAGTGTTGGGGTTACAGGCGTGAGCCAATGCGC CTGGCCTAATTTTTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 NA20129.hp2 HG02922.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0287 a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0287	3	398	0.0075	-1314	c.4-6 others(13): Show c.4-6043_4-4730del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF57_chr19_2895928_2923473	2909481	CATGTTAG others(1307): Show CATGTTAGCCAGGATAGTCTTGACGTCGTGATCCGCACGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGCATGAGCCTCTGTGCCTGGCCGGTATCTTG TTTTAATTTGCATTTCCCTGATGACATGATGTGGAGCATTTTTTATATAC TCATCTGCCATCTATATCTTCACAGATGAGTTGTCTTAAGGTCTTTAGCC TCCACACCTGGCTAATTTTTTCTTAATTTTAGAAATGGGGTCTCACTGTG TTGCCCAGGGTGATGTGAAACTCCTGAGCTCAAGCAATCCTCCCACCTTG GCCTCCCAACATGCTGGGATTACAGGCATGTGCCACCACACCTGGCCTAT TTGTACATGCTTTACTCTACATCGCACTCTCCTGATGACTACAGCTCTCC AGAAAGCCTGGAAAATGCATAGTGTCAGTCTTCCAACTTGAACCTTCCCC TTCAATACTGTGTTGGTATTTTGAGTCTTTTACCTCTCCATATAAACTTT ACAATCAGTTTGTCAATATCCACCAAATAACTTGCTGGGATTTTGATTGG GATTGTGTTGAATCTATAGATCAAGTTGGGAAGAACCAATGTCTTGACAA TATTGGGTCTTCTATACGTGGACATGGAATAACTATTCACTTAGTTCTTT GATTTCTTCTGTCAGAGTTTTACAATTTTCCTAAGATCTTGTGCACATTT TGTTAGATTTATACCTGTATGTTTTATTTTAGGGCAATGCTGATTTAATT CCAGTATTGTCTAAGAGCATATGATGTACGATATTCTTTTAAACTTGTTA AGGTGTTTTATGTCCCAAAATACAGTCTAGGTTGAGGAGTGTTCCACGTG AGCTTGACAAGAATGTGTTTTCTGCTGTTGTTGAAGTTGTCTACAGACAT TCATCATTGGGGGTGCTGTTGAATTCAACTCTGTGCTTATTGATGTTCCA CGTGCTTGATCTGTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCGCGATCTCT GCTCACTGCAAGCGCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGCAGCTGGGACTACAGGTACTCCCCGCCATGCCCAGCTAATTT TTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCACGATGGTCT CAATCTCCTGACATCGTGATCTGCCCGCCTCGGCCTCCCGAAGTGTTGGG GTTACAGGCGTGAGCCAATGCGCCTGGCCTAATTTTTATATTTTTAGTAG AGACGGGGTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02622.hp1 others(5): Show HG01109.hp1 HG02257.hp1 HG02622.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002	a0001c0005t0001g0117 a0001c0005t0002g0023 a0001c0005t0002g0057 others(4): Show a0001c0005t0001g0117 a0001c0005t0002g0023 a0001c0005t0002g0057 a0001c0005t0002g0058 a0001c0005t0002g0059 a0001c0011t0002g0060 a0001c0011t0002g0061	8	398	0.0201	-1314	c.4-6 others(13): Show c.4-6040_4-4727del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3			chr19	TogoVar
ASMT_chrX_1610059_1648081	1637210	ATGGCACA others(1306): Show ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	223	0.0045	-1313	c.910 others(16): Show c.910+653_910+1965del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GMCL1_chr2_69824660_69886384	69853374	CAGGTGCC others(1306): Show CAGGTGCCAAGGGAATACAAAAAATATATGAGATAATGTGGAAATTCTTT TCATTAACTTGGCTGTCTTTTTACAATTTTCAGGAAAAAAATATTTTAGT GGGGAACACCTTCTGGTCTACAGAAAACCTGTGTTCCATGTGAAGCATGG TTTGAGACATAATAGTCTATAATGGCAACTGTCATGTTTTTCTCCTTATC CTTAATAGCAACAGGACTGGGTATACATACTCTCCTGGGTATATGTCGTT TAACAGAAAACATAGACTAGGGCTCATGCACAAATACCTGTTTGATAGCA GTAACTCTAAACCTTTCCTTCTGACTCATGAAAGCACACTGGAATGTAAC TGAGGGTAATTTTTAGGAATAACCTTAAATTCTCCCTAAAAGAAAAAAAA TTATATACTTCATAAACTTGAATTATTCTATTTTCTTTTCTTTTTTTGAG ACAGAGTTTCACTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCTCAG CTCACTGCATCCTCTGCCTCCCGGGTTTAAGCAATTCTCTGCCTCAGCCT CCCAGTTAGCTGGGTTTACAGATGCCCACTACCACACCCAGCTAATTTTT TTTGTATTTTTAGTAGAGACAGGGTTTCATCATCTTGGCCAGGCTGATCT TGAACTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGTTGGG ATTACAGGCGTGAGCCACCACGCCCAGCCAAATTATTCTATTTTCAGTAT TATTATTATTATTATTATTATTATTATCATTATTACTTATTTTAGAGACA AGTTCTTGCTCTGTCACACAGGCTGGAGTGCAGTGGTGCAATCATAGCTC ACTGCAAGCTGAAACTCCTGGGCTCAAGCAATCTTTCCACCTCAGCCTCC TGAGTAGCTGGGATCACAGGCGTGAGCCACCACGCCTAGCCATACAGTGT CTTTCTTATTTTGTATTTCAATAGAGAATTAATATATTAACTAGTGTTCA TTACATGTAGCTGAAATGTAAGTTAAAAGAAATTAAGAGATATTCTTTGT CCTGTGTACCTTATCCTTGAGTGAGGCTTTTGGGCTCCAGAGTTTCACTG GCCTGTTCAGGTCTTGGGAGGGGGATTCTGGCGAGAATGTGTAATCCTAA GTACCTTTCTCAAGCCTTCCTTTCCCAACTTGCTGCACTATACATGCCAA ATGCCCAGAAACAGCTGAATTCCCAGCCTGGGGGTTTCATTAAGACCAAA GTTAATTTCCTGGGATTTTAAAATAAATCTCCTTATGTTCTTATCTGTAA ACCTAAGGTTTATA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	390	0.0026	-1313	c.935 others(16): Show c.935-1447_935-135del	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1014793	CTGTGTGT others(1305): Show CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGG ACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGT GTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-1312	c.73+ others(19): Show c.73+106836_73+108147del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOC4L_chr12_132139457_132157468	132149180	CACACCAC others(1305): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0202 a0001c0005t0001g0202	1	294	0.0034	-1312	c.901 others(15): Show c.901+286_902-489del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
TCF25_chr16_89868592_89916379	89901414	TGAGGGGC others(1304): Show TGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCC GGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGA GGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGG TGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGC GGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT GAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAA AAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCC TCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATC CCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAA TCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGT CTCAAAAAAAAAGAAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTG TGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGC TGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGG GCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGG GCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGCCGGCAC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCAACATAGCGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAAAGA CGGGCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(27): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0014 a0005c0007 a0001c0002 a0003c0014 a0005c0007	a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 a0005c0007t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 others(27): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0005g0027 a0003c0014t0001g0026 a0005c0007t0001g0047	30	300	0.1000	-1311	c.138 others(18): Show c.1381+670_1382-1344del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102529901	CGCCACTG others(1303): Show CGCCACTGCACTCCAGCCTAGCGACAGAGTGAGACTCCGTCTCAAAAAAA AAAAAAGAAAAGAAAAAGGAAAGTTGCACACTAACTGCCGTGGAAGGGCA CTTGCTAGGTGCCAGACACTGTGCTGTCACACTAAAACCTCCCACCCTAT GAGATGAGTGTTCTTCTCCCAGTTTTACAGATGAGGAGCCTTGCACACAT GGAAGTTAACTTGCCCACCAGTCAGCTAGAGAAAGGTGGAGCTGGGGTTT GATGGGCTCAGTTGCTTCCACAGCGTGTATTCTCGTCCACTTTGCTGGGC TCCTCTCTGGCATCTTATTGGGATGCTGGAGTAATATGTTAATAATTTCA TGCAGTTTCCACCTAAGTCCACCCAGAGACCTCCAAAGGGTCCAAAGATC GTGAGACTAAGAATGTCTGACACCTGCCTTCCTCACTTCCCAACTTCCCT GTCTCTAAGCCAGGCTCAACACTCTGCCTAAGTCCTTCAGCCCATAACCT TGGGCTGGCATTTAGTTTCTCTTTACCTTTGTCCACTATTTTAAATCTTT TTTTTTTTTTTTTTTTTTAATGGAGACAGGGACTCACTCTGTTGCCCAGC CTGAGTGCAGTGGCACAGTCATAGCTCACTACAGCCTCAAACTCCTGGGC TCAAGTGGTCCTCATGCCTCAGCCTCTTGAGTAGATAGGACTTCAAGTTT GTGCCACCATGCTTGGTTAATTTTTAAATTTTTTATAGAGATGGGGTCTC ACTATGTTGCCCAGACTGGTCTTGAACTCCTGGGCTAAAGCAATCCTACT GCCTCGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCATGTCTG GCCTTCTGTGACTCTTAATCCCAAGGAAATAACCCAAATATGGGAAGGAA ACGAGGTAATATGCACAAAAATATTTTCCAAGGCATAGCTTTGGAAGCAA CCTTATGTCCAACAAGAAAGCAGTGGTCAAATAGAGGACTATATATGGTT TTCCTGGTTTTGTAATAAATGATAATAGTAATTATCAAGAAAATTGTAGT TTCTTGGCTGTGCATGGTGGTTCACACCTGTAGTCCCAGCGCTTTGGGAG GCTGAGTCAGGAGGATTGCTTGAGCCCAGAAGTTTGAGACCAGTCCAGGC AACATAGCAATACCCCATAACCCATTTCTACCAAAAAAAAAAAAAAAAAA AAAATGTAATCAGGTGTAGTGGTGCACACATGTAGTCCCAGCTACTCAGG AGACTGAGGCAGGAGGATCACTTGAGCCTGGAAGGCTGAGGCAGCAGTGA GTCACGATCAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19077.hp1 NA19085.hp1 NA19011.hp2 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169	3	268	0.0112	-1310	c.318 others(19): Show c.318-20050_318-18741del	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar

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