Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NXN_chr17_794310_984776	941891	CGCAGCCA others(1076): Show CGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGAT TCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGTGA ACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTT ACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCC TGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAAC ACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAATTC ACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCA TGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGT GCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATT CCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAA CAAGATTCCAGGGTGCAGCCATGAATTCACCACACACCTTCCTGGATTTA CAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCT GGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCACATCACA CCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCAGCCATGAATTCA CCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCAT GAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCG CAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTC CAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAAC AAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTAC AGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTG GATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACAC CTTCCTGGATTTACAGTGAACAAGATTCCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG01891.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0007 a0001c0001t0033g0241 a0001c0001t0005g0007 a0001c0001t0033g0241	2	151	0.0132	-1083	c.360 others(19): Show c.360+36345_360+37427del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PCNX1_chr14_70902459_71120382	70983551	CCTCGGCC others(1076): Show CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAC CCATAGCTAATAATTTTGTTACTGTTTGCTCTGGTTCCTTGGCTTGTCAA AAAGTAGGCCAGTCCTTTAAAATGTTTTCACAGATGGAAATTATTTTAAT TCAGAATTGATGCTTAGAAATTGGGCAGTGTTTGGCTTCCCAGAAAATGA CACTTAAAAACATTTATTTATTTACTTATTTTTTGTTATTTCCAACAAGA ATGAGCTTGAAAAGCATTTGTTTTTTCATTGGAACAAAATCTTTGTATGT TGATGGTAGCATCGTTCTTGGCTGACAAAGAAACTAAGAAAGGGAAAAAC TATTTAGATAAAGTGGATTTCATGCCTAGACTAAAACATTCCTTTTAGAA TGTTTTTGCAAAATTACTTGAATGTTTATGTCTTTATATAGTAATTTTGT TGTTGGGTAAAATCCCTTTTATCCTGAACATTACAATGTGTTTCAGAATG TTTGCAGATGCCTTTTCTTTTTCTGAGATATATATATACTTGTTTCATAC TTTTGTCATCTTTCTTAAGAATTTAATTTCCTAATAGCATTTTTTCTGAT CTTTTTGAAGTACTAAATGCCTATTTTTATTTTCGTGATCTTTCCAGATT TACACCTTTTCCCCCCACGATAAACATTTCTCACTGGAAAGAACACTTGA GCAATTTCCTCTGTCTAAATTTTTATTAATTTAATTGAAATTGAGCTACT GCAAGATGCCAACCATAGCAGTACATGACAACTAGAAAGTGACTTATTAC ATATTATTTCTTTCATAAATTAATCAGGTATATGATTGACATCATTTTTT TTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTGCAGTGGCACG ATCTTGGCTCACTGCAAGCTCCACCTTCTGAGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTCCACCACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCAGTCTCCTGACCTTGTGATCCGCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0220 a0001c0001t0058g0220	1	350	0.0029	-1083	c.231 others(19): Show c.2311+4946_2312-3891del		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	6/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
ERC1_chr12_986223_1500931	1089817	GAAAGTGC others(1075): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTG TTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTA TTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGTTGTTG TTATTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01346.hp1 others(1): Show HG01257.hp1 HG01257.hp2 HG01346.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0020 a0001c0001t0038 others(1): Show a0001c0001t0014 a0001c0001t0020 a0001c0001t0038 a0002c0002t0013	a0001c0001t0014g0050 a0001c0001t0020g0141 a0001c0001t0038g0150 others(1): Show a0001c0001t0014g0050 a0001c0001t0020g0141 a0001c0001t0038g0150 a0002c0002t0013g0133	4	158	0.0253	-1082	c.108 others(19): Show c.1086+6238_1086+7319del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
PARVB_chr22_44019302_44177939	44169061	GGTGCAGT others(1075): Show GGTGCAGTTAGCGATCACAGGCCTTCAGAAGTACAACATCAGCTCAGCAG GAACGCCGGCTCCCCGAGGACCCAGGCTTGACGATTCACCGGGGATCTCC TGGGCTGGGCTCTCCTTGGAAGTGAGGCCTTTTATTAAAAATAAAAGGGT TTTGCAGTTTGAAAAACTTTAAAGTCCCAGAAGCTTAGATGTGACATGGG TGTCCTCCACCCACATTCCTATCACTTCTTGGTCACTCGTTTTAATGTAG GTTTTGCACAAACATCCAAGACTCAGGATGGCCCAGCTCCCACAGTCCTT GAAAGGAGCTGTCTGCTGGGGACGTTTCTTAATTTCTTGCTGTGGTTGAG GGGCTGGGTCTGGAGATGGCTCTAATTGTGCTGCTTGAGACAGCTTGGGT CACAGCTTTCCCCTTCAGAGGCCCTTTTTGGGAATGAATGCATCTTTGGA AACTTTAAAATGAGGGGGGTGCATTGGTTCACTGGCACTGTGTAGTAAAG TGCCACAGGGGAGTGGCTCAGACATCAGAGAATTACATCCTCAGGCCTTT CGCCTTGGCTTGTAGATGCCGGCTTCTCCCCGTGTCTTCACATGGTCTCC CCTCTGTGTGTCTGTGTCCTCACCGCCTCTTTTATTTTATTTTTTATTTT TGTTTTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGC AGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCAGGTGCCACC ACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTCAGCCT CCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTATTTTT TTTTTTTTTTTTGAGACAAGTTCTCACTGTGTCACCCAGGAGTAAAGTGG TGCCATCTCAGCTCACTGCAGCCTTGATCTCCCAGGCTCAATTGATCCTC CCACCTCAGCCTCCCAAGTAGCGGGGACCACAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02055.hp2 others(12): Show HG01243.hp1 HG01433.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0019 a0001c0025 a0001c0028 a0003c0034	a0001c0001t0009 a0001c0001t0031 a0001c0001t0032 others(8): Show a0001c0001t0009 a0001c0001t0031 a0001c0001t0032 a0001c0002t0009 a0001c0002t0013 a0001c0005t0009 a0001c0011t0033 a0001c0019t0013 a0001c0025t0013 a0001c0028t0013 a0003c0034t0034	a0001c0001t0009g0087 a0001c0001t0009g0100 a0001c0001t0009g0120 others(12): Show a0001c0001t0009g0087 a0001c0001t0009g0100 a0001c0001t0009g0120 a0001c0001t0009g0129 a0001c0001t0009g0321 a0001c0001t0031g0209 a0001c0001t0032g0151 a0001c0002t0009g0322 a0001c0002t0013g0327 a0001c0005t0009g0072 a0001c0011t0033g0326 a0001c0019t0013g0060 a0001c0025t0013g0099 a0001c0028t0013g0174 a0003c0034t0034g0324	15	330	0.0455	-1082	c.38 others(10): Show c.389_*1470del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	13/13				389	INFO_REALIGN_3_PRIME	chr22	TogoVar
RAD51C_chr17_58687602_58740611	58730429	AGCCTCCC others(1075): Show AGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTC AACATAGCTATTCTTGTATTACATATTACTTAGCAATTATTTATGTTTAA AGTTGCAATTACAGAGTATAGAACATTTTGGATTCTGCTGTATTTTGGTC TGTGTTTTTCTTTTGAATTGTGTCTGAGAAGAGGGGCAATTTCAAAATTA AGAGAGTAACAGATCATAGCCAAAATGTCCTTTTTGAATTGTCTTTGAAA ACAAATCATTCTATTTTGTGTAAGTAAATGACCCTTATAACTCTGAGAAT CTTATTTTCCTCTAGGTTAGAATCTGTATTTTTTAGATCAGTTTCATTAC ATTGTGCTAAAACATGTATATAACATAAAATTTACCATTTTATGTTTACA TATAGTTCACTGGCATTAGGTACATTCATATTGTGCAGCCATCATCATCC ATTTTCAGACCTTTTTCATCTTCCCATACTGAAACTCTGTACCCATTAAA TGCTAACTCATTCTTTTTTACCCCCAGCCCCTGACAATCACCATTCTACC TTCTGTCTCTGAATTTTACTCCTCTAGCAACCCCATATAATTGGAATCAT ATAATACTTGTTCTGATGTGACTGGCTTATTTCACTTAGTATAATGTCTT CAAGGCTCATTTATGTTGTAGCATGTGTCAGAATTTTCTTCCTTAAGTCT GCATATTCCATTGTATGTACATACCACATTTTGTTTATTCATCTGTGGAT GCACACTTGGGTTGCTTCCACCTTCTGGCTATTGTGAATAAGTTACAGTG TATCAGTTTTAAAGTAATTCTTAAAAGCAGTTTTTTTTTTTTTTTTTGAG ATGGAGTTTCACTCTTTTTTGCCCAGGCTGGAGTGCAATGGCATGATCTC AGCTCACCGCAACCTCTGCCTCACAGGTTCAAGCGATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATT TTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC GAACTCCCGACCTCAGGTGATCTGCCTGCCTTG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19068.hp1 NA18971.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0127 a0001c0001t0001g0087 a0001c0001t0001g0127	2	328	0.0061	-1082	c.966 others(16): Show c.966-2033_966-952del		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM117_chr12_43831081_44394758	44298048	CTAAAATT others(1075): Show CTAAAATTTTAAAAAATAATGTATCTTTCCATTCATGAGGAGAAAAAAAA ACATAAGAAGTGTTTCTTTATATCCATTATATTAAAGTATAACTTGCCTC AAATAAGAAATTGTGAAAAGGAAAACCAAATTTTTGGCTTAGAGGTTTAC ACTATGTACAATTGAAAAGAGAATTCTATGAAGATTCATATTATTTTATA TGAGTTTCAATTATTATAAGACATTAGAGGGCAAAAACGGTTTTGTTAAT TGCCAAAACGGATATGTGTTCTACAATGTTATTTCACCTCTATGTTTTTT CTTCTGTTTTCCTTTATTTCCCTTTTCTTTCTTGCATTTTTATCTGATTA AATTTATTTCAAGTAATTGTTTTTTTTTTTCTTCTTATAATTCTAAACAA TATCTAGCCATCAATATAGCCCTGAAAAGCACAGGCTTAACTACATTATG GACAATTCTCTGGCAGATCAAATTTTCATCACCCACATTTCAGATCTACT TTAAAAGTCAGCATTAAAGACTAATTTGAGTATTTTTCTGATTTTTAAAA ATGCTTTAGTTTCAACTAACCCTCATTGAATTCCATCTGTGTATACTTAT GCAAGATTTTATGGGGGCTACAAAGATAGATAAGAGAAAATGTCAGGCTC CTAGTATCTTATCTAGCAGGGAGCAGTTGCTCTGACATGGAGAGAGGTCA CTAGACCACAAGCCATGGATGATATATGTCCTATGAGAACAGGCTACATT ATTGGCTTTTAGAGGTGGTCCCTGTATGGAGCTTATCAAGTCTTAGAGAT GGTGATGAGTCTGGTCTAACTATCCCTCTCTTTTGTAGAAGGATAATGGA ATCCAAAGATTTCCTCACCCATTCACCATCTGCCTTATCTTCTTACATTG CATGTCCACTACCCTTGGTAAACAATGTACAGGTTTACTAAGAGCTACAC ACCAATGTTTTCTTGGGACACTTACTGCACTAACCAAAGTCATTTTTAAT ATTGTTGTTGTTAATTATTTGTTCCATAATTATTATCTTAATGTTCTTTG GGGAAAACTGCTTTTGATAGAAGGCATTTAATT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01192.hp2 others(9): Show HG00741.hp1 HG01167.hp1 HG01192.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 others(9): Show a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059	12	108	0.1111	-1082	c.609 others(16): Show c.609-1530_609-449del		TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
DAPK3_chr19_3953453_3976099	3973805	TCATGTTA others(1074): Show TCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAG GCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCT GAAATCCCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGG GAAGGAGACCAGCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAA GTAAAAATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTG GCTAACACGGTGAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCG GGCATGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAG CCACTGCACTCCAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAA AAAAAATTCAGCTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAG AATAGGACCCGGTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCTGAGGCGGGCTGATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAA CATGGTGAAACCCCATCTCACCTAAATATACAAAAATTACACAGACCTGG TGATAGGCGCCTGTAATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATT GCTTGAGCACTTGAATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACA ACACTGCACTCCATCCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAA TCCGTTACCCTGACTGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAA TGCGACAGCCAAACCAAACCTCAGGCATACCTACATGTGGGCAAAACCTC AGCTGAGGCTTGGCCTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTG CCGAGAACCCCACAGCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGA CAGAGTAAAAGGCGGAAAATGATCATGTTAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-1081	c.-40 others(11): Show c.-4060_-2980del		DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding					2707		chr19	TogoVar
EEF2_chr19_3971056_3990463	3973805	TCATGTTA others(1074): Show TCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAG GCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCT GAAATCCCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGG GAAGGAGACCAGCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAA GTAAAAATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTG GCTAACACGGTGAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCG GGCATGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAG CCACTGCACTCCAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAA AAAAAATTCAGCTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAG AATAGGACCCGGTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCTGAGGCGGGCTGATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAA CATGGTGAAACCCCATCTCACCTAAATATACAAAAATTACACAGACCTGG TGATAGGCGCCTGTAATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATT GCTTGAGCACTTGAATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACA ACACTGCACTCCATCCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAA TCCGTTACCCTGACTGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAA TGCGACAGCCAAACCAAACCTCAGGCATACCTACATGTGGGCAAAACCTC AGCTGAGGCTTGGCCTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTG CCGAGAACCCCACAGCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGA CAGAGTAAAAGGCGGAAAATGATCATGTTAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	-1081	c.16 others(11): Show c.1668_*2748del		EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding					2250		chr19	TogoVar
PCGF3_chr4_700832_775089	746521	CCCGGGGT others(1074): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTG TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02735.hp2 HG01978.hp1 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0236 a0002c0002t0001g0233 a0001c0001t0001g0236 a0002c0002t0001g0233	2	363	0.0055	-1081	c.462 others(17): Show c.462+1836_462+2916del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
ACAP3_chr1_1287391_1312930	1288246	TCTGCTCC others(1073): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0201 a0002c0006t0005g0201	1	229	0.0044	-1080	c.42 others(11): Show c.4238_*5317del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4144		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(1073): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02818.hp2 others(8): Show HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03579.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0004 a0003c0007t0004 a0001c0002t0004 a0003c0007t0004	a0001c0002t0004g0006 a0001c0002t0004g0010 a0001c0002t0004g0071 others(7): Show a0001c0002t0004g0006 a0001c0002t0004g0010 a0001c0002t0004g0071 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0288 a0001c0002t0004g0295 a0001c0002t0004g0298 a0001c0002t0004g0305 a0003c0007t0004g0291	11	145	0.0759	-1080	c.45 others(11): Show c.4512_*5591del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4521		chr1	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(1073): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0011 others(8): Show a0001c0001 a0001c0003 a0001c0011 a0001c0018 a0001c0023 a0002c0002 a0003c0006 a0003c0008 a0006c0022 a0007c0013 a0008c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0003t0001 a0001c0011t0001 a0001c0018t0001 a0001c0023t0001 a0002c0002t0004 a0002c0002t0005 a0003c0006t0001 a0003c0008t0001 a0006c0022t0001 a0007c0013t0001 a0008c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0006g0029 a0001c0001t0011g0139 a0001c0001t0012g0108 a0001c0001t0013g0093 a0001c0001t0014g0109 a0001c0001t0015g0124 a0001c0001t0016g0082 a0001c0001t0017g0110 a0001c0001t0018g0094 a0001c0001t0019g0089 a0001c0001t0020g0121 a0001c0003t0001g0086 a0001c0011t0001g0102 a0001c0018t0001g0115 a0001c0023t0001g0142 a0002c0002t0004g0006 a0002c0002t0004g0019 a0002c0002t0004g0054 a0002c0002t0005g0005 a0003c0006t0001g0032 a0003c0008t0001g0071 a0006c0022t0001g0128 a0007c0013t0001g0090 a0008c0015t0001g0113	230	315	0.7302	-1080	c.-19 others(10): Show c.-1989_-910del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					557		chr1	TogoVar
FBXW4_chr10_101605666_101700170	101634255	ATATAAAA others(1073): Show ATATAAAAATATAAAACTTTACTAAAGAAAATAGAATTGTTGAATAAGTT TGGAAACATCATATTCCCAGATGTGAAATCCTGATTATAAAACTGTCAGT TCTCCCCCAATTAATCTATAAATTCAATACAGTCCCATCTACACAAGATT TTTACTTAATCAATTGATTCTAAAATTCATCTAGAAGAGGAAAACCACAA GAATAACCCAGAAATATCTGAAAAAGAACAATAAGAAAGAAGTTGTTCTA CCGGATCAAAACATACTTTGTATGATATTCATGCTGAAATAGGTGAATAG ATCAGTGGATCAGAATAACGAATCCAAAGCCACACCTATCTACTTGTAGA AAATCAATAGATCCTAAGTGTGGTCTTTAAGAGAGTAAAGAATGAACTAA TCAATAAATGGTATAGGGTCCACTGAATACACATTTGAAAAAAAAAATTA GAAGCCTACCTCCCAGCAGATATCAATCTCAGATGGATTAAGGAGATAAA CATTTTTAAACTGTATGAAAACCCATAAAGGTCTAAGAAAAAAATATAGG AAAATAGTTTTATAATCTTGGAAAGACATTCTTAAGATAAACACAAAATT CTGAAGCCATGAAGGTAGTGATCAGACAGACCTAACCTACAAATAACAAA AACTTCTACACAACAGAAGACATCAAAAACAACAAGCTGAAAGGAATTAC CATATACAGCAGGGGTCTCCAACCCCCAGGCCACAGACCTGTACCAGTCC ATGGCCTGTTAGCAACCAGGACGCACAGTAGGAGGTAAGTGGTGGGCAAG CAAACTTCAACTGAATTTACAGCCACTTCCCATCACTGGCATTACCACCT TGAGTTCCACCTCCTGTTAGATCAGGGGTAGCATTAGATTCTCATAGGAG CACAAACCCTATTGTGAACTGCACATGCAAGGGATCTAGATTGTGGCTCC TTTTGAAAATCTAATGCCTGAGGATCTGTCACTGTCTCTCATCACCCCCA GATAGGACCATTTAGTTGCATGAAAACAAGCTCAAGGCTCCCACTGATTC TACATTATGGTGAGTTGTATAATTATTTCAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01261.hp2 others(15): Show HG00280.hp1 HG00735.hp1 HG01261.hp2 HG01346.hp2 HG02040.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(15): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0004t0001g0015	18	208	0.0865	-1080	c.123 others(20): Show c.1236-10525_1236-9446del		FBXW4	ENSG00000107829.15	transcript	ENST00000331272.9	protein_coding	5/8						chr10	TogoVar
MUC4_chr3_195741771_195816929	195775635	CCATACCT others(1073): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATA CCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACATCCATACCTTC CACGGCCATAACTTCCACACCCATACCTTCCACACCCTTACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACAGCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACAGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCATACCTTC CGCATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCGCAC CCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01106.hp2 others(3): Show HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01361.hp2 HG01515.hp2 NA19043.hp2	a0014 a0015 a0029 others(1): Show a0014 a0015 a0029 a0035	a0014c0012 a0015c0011 a0029c0036 others(1): Show a0014c0012 a0015c0011 a0029c0036 a0035c0035	a0014c0012t0002 a0015c0011t0002 a0029c0036t0002 others(1): Show a0014c0012t0002 a0015c0011t0002 a0029c0036t0002 a0035c0035t0002	a0014c0012t0002g0062 a0014c0012t0002g0190 a0015c0011t0002g0194 others(3): Show a0014c0012t0002g0062 a0014c0012t0002g0190 a0015c0011t0002g0194 a0015c0011t0002g0195 a0029c0036t0002g0192 a0035c0035t0002g0191	6	208	0.0288	-1080	c.129 others(21): Show c.12943+1588_12944-1331del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195776327	ATACCTTC others(1073): Show ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCC ATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACC TTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTC ATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTC ATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0067 a0077 a0067 a0077	a0067c0120 a0077c0121 a0067c0120 a0077c0121	a0067c0120t0006 a0077c0121t0007 a0067c0120t0006 a0077c0121t0007	a0067c0120t0006g0029 a0077c0121t0007g0185 a0067c0120t0006g0029 a0077c0121t0007g0185	2	248	0.0081	-1080	c.129 others(20): Show c.12943+896_12943+1975del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MXRA8_chr1_1347691_1363555	1349974	TGGGAGGA others(1073): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0001c0013 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0002t0003 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0011g0027 a0001c0002t0003g0004 a0001c0002t0003g0022 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0046 a0001c0010t0001g0036 a0001c0011t0001g0037 a0001c0013t0001g0038 a0004c0007t0001g0054 a0005c0008t0001g0035	226	314	0.7197	-1080	c.25 others(11): Show c.2550_*3629del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2716		chr1	TogoVar
PCGF3_chr4_700832_775089	745720	GGGGCCCG others(1073): Show GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	364	0.0027	-1080	c.462 others(17): Show c.462+1036_462+2115del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP2R3B_chrX_328933_391907	342489	GGAGACCT others(1073): Show GGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCG GGAGGGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGA GGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAAC GGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGC CAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACC TCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGGGA GACCTCAGCAACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGA GGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGC GGGAGGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCGCCAAGGAG AGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAA CGGGAGGCGGGAGTGAGACCTCAGCAACGGGAGGCGGGAGTGAGACCTCA GCAACGGGAGGCGGGAGTGAGACCTCGCCAAGGAGAGGCGGGAGTGAGAC CTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGG AGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGG AGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGG CGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGG GAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCA ACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTC GCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGA CCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGG GAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGG GAGTGAGACCTCGCCAACGGGAGGCGGGAGT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02165.hp2 others(6): Show HG01071.hp1 HG01071.hp2 HG02165.hp2 HG03834.hp2 NA18940.hp1 NA18960.hp1 NA18994.hp1 NA19086.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0007 others(2): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0003c0009	a0001c0002t0001 a0001c0004t0003 a0001c0007t0001 others(2): Show a0001c0002t0001 a0001c0004t0003 a0001c0007t0001 a0001c0008t0001 a0003c0009t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 others(6): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0004t0003g0004 a0001c0004t0003g0013 a0001c0007t0001g0011 a0001c0008t0001g0002 a0003c0009t0001g0023	9	22	0.4091	-1080	c.103 others(18): Show c.1037-1638_1037-559del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12						chrX	TogoVar
RASA3_chr13_113972783_114137623	114085876	CCGGGGAA others(1073): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCG ACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGT ATCGACTCCCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	59	0.0169	-1080	c.56- others(17): Show c.56-13119_56-12040del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RERE_chr1_8347404_8822640	8490186	TCCTGTCT others(1073): Show TCCTGTCTCTACGAAAAATACAAAAAAATTAGCTGGACGTGGTGGCACAT GCCTGTAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTAAACCTGGGA GGAGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGC AACATCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAACCTGTTT GACAGTTTCTGAGAGAGCTTCCTACGTACAAACAATCCTGCCACTCCAAG TATTTACCTGAGAGAACTGAAGATAAATGTCAACATAAAGACTCATACAA CAATGTTGAAAAAACTTTTATTTATAATGGCCAAAAGCTTATAAACAACC AGAATGTTGTTTAACAAGGTTAAAGAATATGAAAAAATTGTGAATATGCA TATCCATACAAGGGAATACTTATCAATAAAAAGGGGATGAACTATCGATA CATGAAACACAACTGGCTCTCAAAATCCTTATGCCCAAAGAAGTCACACA ATATGATTCCATTCCTGTAACATTCCGCGAAATGCAAACTACTCCAAAAT GATTTTAAAAAAATAAAAAAAACATTGAAAACACGATACTTCAATGGCTA TCTGAGGCTGGAAGCAGAAAATGATTATAAGAGGCCATGAGGCAACTTTT GGGGGTGTTGGAAATGTTTTGTATCTTGACATTATAGTAGTTTCACAGAT TTATAAGTAGTTTCACAGATTTATATATCTGAAAACCCTCAAATTTTTTA CTTTGAAACAGAGCAGTTTATTATACATAAATCTTACCTCAATAAGTTGT TTCAAAAATTACACACTAGCAATCTCTTTTGTTAATAATGAAGAAAAAAC AGAATAAAAATAAGTAATCTAAGAGCTTAGATTCAAAAATAGGTCCACAT AATTGTCATAAAGAACTGATAGCTCTGGGCAACATTGTGAGACATCATCT CTGCAAGTAAAAATAACCAGCTGGGCCAGGCGCAGTGGCTCACGCCTGTA ATCCCAGAACTTTGGGAGGCCAAGGCAGGTGAATCACCTGAGATCGGGAG TTCGAGACCAGCCTGACCAACATGGCGAAAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG01884.hp1 others(11): Show HG01167.hp1 HG01175.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA18906.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0006c0021	a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0002t0028 a0001c0004t0010 a0001c0004t0022 a0006c0021t0003	a0001c0001t0003g0121 a0001c0001t0006g0153 a0001c0001t0006g0154 others(11): Show a0001c0001t0003g0121 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0028g0133 a0001c0004t0010g0119 a0001c0004t0022g0120 a0006c0021t0003g0135	14	202	0.0693	-1080	c.110 others(19): Show c.1104+3797_1104+4876del		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	10/22						chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(1073): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02818.hp2 others(7): Show HG02258.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03579.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0002c0002t0004 a0002c0002t0010 a0002c0002t0015	a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 others(1): Show a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 a0002c0002t0015g0044	10	134	0.0746	-1080	c.-43 others(11): Show c.-4375_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2996		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288246	TCTGCTCC others(1073): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	211	0.0047	-1080	c.166 others(17): Show c.1662+222_1663-933del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM255B_chr13_113754226_113821995	113802582	AGACCCGG others(1073): Show AGACCCGGCCCAGCGAGGCAGCGAAAACACTCCTGAGCGGCTTCTCCATG CCCTATTCGTCCCAGAGGCTGTCCATGACTAAAAATTAGCTCAGCTGGGA ACCCTCCTGCCATCTGCTTCTCAGCTCCTCCTTTTCTCAACACTTTTGTG CTTCCAGACAAAACTGGTGAAGCTGAGAGTGACCCTGGCATCCCGAGGTC CAGCCCTCTGGCTCCCCACCCAGTGGCCCCCCAAGCCCCACCCTGGGCCC CCAGACGCCCGCACACCAACACAAGACAGGCACCTCCCAGGGGTCCTTGC TCTGTGGTGACAGCCGGCCGGCCCCTGCGGTGGGAGCGGGAGTCTGGGGT CGGGAAGGGTCTCTGCCGGGATCTCGCGGGCTCCGGGCGCCTTTGGCGTC TCCTCGGTGCAAGCTTCTCTGCCTCGGCAGCTCAGTGTCTCCTCTCAGCG GCCGTCCCAGGAGGAACTGCAGCCGGATTGTAGACAGGACACAGAAACGC TTGTCTGGTGCAGGCGCCATGCTCGCCACACAGGCCCGGGGTGTCCAGGG TTTTCCGGAAGGGGCTCGTGTGTTCATTAAAGCCCGTGATAAAATGCTGG AGTGCAGGATCAGGAACAGGTGATACCTCCAGGGCCAGCCCGCAATGCAG AGCCACACCGGCTCCAGGAAGTCTTCCTCGAACCCAAAGCTCAGGGCTGC AGAGCAAGGAGAGGACTTGCTAACCTTCACACCCACCAAGCAGGCCCTCT TGTGAGTTTAACTGATTTTGCCATTTAAACATTTTGTTAAGGAATGAAGA TGCTTCCTTCATTCCTTAACATTCCAAGCTGGACGTGCCCTTCGTAGACG AGGGCAAATTACTTGTGATGGGTGCGTGGGAGGCACTTAACGTGCCGGCA AGGGCGGGCGGCTGAGCCAGCCTCTCAGGGGCCTCCTCCGCGTGTGACTC CGTGGCCCCCGTGTTCTCTGCTTTCTGTGCACTCGCCCCGGCCCCATCCT CAGGCCACCGCCAGCTCAGAGGCCTCCCCACCCCTCTACCTGTCAGAACT GCAAATCTCCTGCCCCTCCCTCACGGAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp2 others(12): Show HG00140.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01516.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0010 a0002c0017 a0002c0004 a0002c0010 a0002c0017	a0002c0004t0006 a0002c0004t0018 a0002c0004t0123 others(6): Show a0002c0004t0006 a0002c0004t0018 a0002c0004t0123 a0002c0004t0137 a0002c0004t0138 a0002c0004t0139 a0002c0010t0004 a0002c0010t0008 a0002c0017t0006	a0002c0004t0006g0007 a0002c0004t0006g0009 a0002c0004t0006g0039 others(11): Show a0002c0004t0006g0007 a0002c0004t0006g0009 a0002c0004t0006g0039 a0002c0004t0006g0044 a0002c0004t0018g0008 a0002c0004t0018g0035 a0002c0004t0018g0218 a0002c0004t0123g0040 a0002c0004t0137g0045 a0002c0004t0138g0007 a0002c0004t0139g0008 a0002c0010t0004g0037 a0002c0010t0008g0090 a0002c0017t0006g0205	15	258	0.0581	-1080	c.669 others(16): Show c.669+776_670-1218del		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF516_chr18_76352682_76500242	76392913	CAGGTGGT others(1073): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 HG02622.hp2 HG03453.hp2	a0001 a0017 a0001 a0017	a0001c0004 a0017c0043 a0001c0004 a0017c0043	a0001c0004t0074 a0017c0043t0023 a0001c0004t0074 a0017c0043t0023	a0001c0004t0074g0302 a0017c0043t0023g0303 a0001c0004t0074g0302 a0017c0043t0023g0303	2	339	0.0059	-1080	c.181 others(21): Show c.1811-13690_1811-12611del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ADA2_chr22_17173790_17224435	17186961	TCGAGACC others(1072): Show TCGAGACCATCCTGGCTAACACAGTGAAACCTCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCCGAGCTTGCAAGT GAGCCGAGATCATACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAATTTGTTTTCCTTTTTGTGTAGAATGG AATCTTACTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGAT CCTCCTGCCTCTGCCTCCCTAAGTGCTAGAATTACAGATGTGAGCCACTG TACCTGGCTAAAACACTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCACC CAGGCTGGAGTTCAGTGAGCCTGGGCTCAGGCAATCCTCCCACCTCAGCC TCTAAGTAGGTGGGACCACAGGTGTGTACCATCATGCCTGGCTAATTTTT GTATTTTTTTGTAGAGACAAAGTTTTGCCATGTTGCCCTGGCTGGCCTCA AACTCCTGGGTTTAAAGAGATCCACCCACATCAGCCTCCAAAGTGCTAGG ATTACAGGCATGAGCCACTGTGCCTGTGCCCAGCCTAAAACGAATTTTTA TAGCCAAAGTAGGATGATGTGAGTTTGCAGGATTATGCCCCTACCACGAA AAATTAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGGATTCAAATTCAGAC TCCACTGCGCACCAGCTCTTTAACCCTGGACCACTGTGTTTGGAGCCTTG GGCTCTTCATCTATCAAATGGAGATTAAAAACTGGGGAAACAATCAGAAA TCAATTAGAAAAGGCCAGGCGCAGTGGCTCACCCTTGTAATTCCAGCACT TTGGGAGGCCGAGGAGGGCAGATCATGAGGTCAGGAGATCAAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC AGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCA GGAGACTCTCTTGAACCTGGGAAGCCGAGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0045 a0003c0011t0045	a0003c0011t0045g0337 a0003c0011t0045g0337	1	406	0.0025	-1079	c.108 others(18): Show c.1081+299_1081+1377del		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9						chr22	TogoVar
DVL1_chr1_1330278_1354418	1349975	GGGAGGAG others(1072): Show GGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-1079	c.-19 others(10): Show c.-1989_-911del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					558		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350095	GGGGGGAG others(1072): Show GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCTGGAGCGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	342	0.0029	-1079	c.-21 others(11): Show c.-2109_-1031del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					678		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350349	GGGGGCCT others(1072): Show GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	342	0.0029	-1079	c.-23 others(11): Show c.-2363_-1285del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					932		chr1	TogoVar
ERC1_chr12_986223_1500931	1089817	GAAAGTGC others(1072): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTG TTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTA TTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGTTGTTG TTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0157 a0001c0001t0019g0157	1	155	0.0065	-1079	c.108 others(19): Show c.1086+6238_1086+7316del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
MXRA8_chr1_1347691_1363555	1349975	GGGAGGAG others(1072): Show GGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	-1079	c.25 others(11): Show c.2550_*3628del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2715		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350149	GGGGGCCT others(1072): Show GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	336	0.0030	-1079	c.23 others(11): Show c.2376_*3454del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2541		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350295	GGGGGGAG others(1072): Show GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0041 a0008c0006t0001g0041	1	336	0.0030	-1079	c.22 others(11): Show c.2230_*3308del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2395		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350349	GGGGGCCT others(1072): Show GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGG GGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGA GGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGG ACGGGGCAGGAGCGACGGGGGGAGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	336	0.0030	-1079	c.21 others(11): Show c.2176_*3254del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2341		chr1	TogoVar
PDGFRL_chr8_17572216_17648144	17623053	CAGTTTCA others(1072): Show CAGTTTCATTCCACAACATCCCTGGGAAATAAGCAAAAGCTATTTTATTA TCTCCAAAATACTAGAAGTACTAATGCTCATGCTGAGCCTCAATGTTCCA GGACCTGTAGTGGCACAATAAGGAGCCAAACCTGTTTTTCTGACCCAGGA TCCAGTGTTTTTACTGCCTTGAACCTTTTGTAGGACAAGGTGAAGGATGG ACTGATAGCCAGATTCTAGCTAGCATAACTGGTGTTGTCAGGAGAATTGC TAATAATTGTTCATAGGCAATCTCTTTGGATCTTCATTTTGGAACTCGCT ACACAAGATTGTAAATGTGCCCTTTGTATTATACCATGCTGTGAAGCAAC AGTGGAAAAAGCAACCAACTAAGATGAATAAAAGTCTGTTATTCAAGTCA ATGACTGATTCCACATTTCAAGTTGCAGAAGGAAGATTCTTTGCCAAGAT TAGCACTGTTGTGTCTTCCCAAAGTATTGGTCGAGGTTTTGAACTGCAGG CTTAGCTTGGGCAGAATATCCTATTAATATTATGGGCTCTTGGCCAGGCA TGGTAGCTCATACCTGTAATCCAGCACTTTGGGAGGCCACGGCGGGCGGA TCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATGGAGAAATCC CATCTCTACAAAAATACAAAAGTTAGCTGGGCGTGGTGGTGCACAGTTGT GCTCCCAGCTGCTCAGGAGGCTGAAGCAGGAGGATCGCCTGAATCTCGGA GTTGGTGGTTGCAGTGAGTCAAGATTGCGCCACTGCACTCCAACCTGGGC GACAGAGCAAGACTTTACCTCAAAAAAAAAAAATACGGGCTCTCTTTGAG TTTTGGAGGCGGAACCTTTTTGTTTTTTTTTTAACTGAACTAATTTTGGG AACCAAAGAAAAGCTAAAATATATTCATTCCAACTATCAAGAAACTTTGA TCAAAAAAAATAAATGCTGTAACACATTTGACCTAATGTGTTATACATCA TTTATTTTTTCTTATTTGTCAACACTAAGCTAGGAGTCCAGTTGGATTTT TACTATAGGGTTTGGCAATTTGTCTTTTCA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	398	0.0025	-1079	c.505 others(17): Show c.505+1854_505+2932del		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
STX8_chr17_9245471_9580820	9449585	ATTGTGGT others(1072): Show ATTGTGGTACAGCTAGACAATAAGCTATTCCACCACAATAAAAAGGCACA AACTACGGATGTATGCAACAATGTGAATAAATCTTAAATGCATTATGCTT AGTGAAAGCAGCCAGATACAAAAAGCTACAAACTTCACAATTCTATTTAT ATTCCATTTTGGAAAAGGCAAAACTTGAGGGACAGCAAACAAATCAGTGA TGCCCAGGGGCTGGGAGTGAGAAGAGGGTCTACCTGTAAAGGGGTTGAAT GAGCCAAGCACAGGTGGCACACACCTGTAGTCCCAGTAACTTGGGAGGCT GAGGCTGGAGAATCTCTTGAGCCCAGGAGTTTGAGGCCAGCCTGGGAAAC ATAGTGAGGCCCCGTCTCAAAAATTAATTAAAAAATAAATAAAGGAGAAT GAAAGAACCTTTGAAGGTGATGGACTTGTTTTATATCTCAAGTATATATA TCAAAACTCATTAAATTGTTCATAAAAAAAAGATGAAATTTGCTACATGT AACTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTAGAGTGCA GTGGTGCGATCTTGGCTTACAGCAACCTCTGCCTCCCAGGCTCAAGTGAT TCTGCCTCAGCCTCCCTAGTAGCTGGGAAAACAGGTATGCGCCACCACGC CCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCC AGGCTGGTCTCAAACTCCTGACCTCAAGTAATCTGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGACCTTACATGTA AATTTAACTAAATAAACCTCACACTAAAAAAGGTAGTAAAAAATAATAAT GCTGTAATGATAGACATTCCTTCAAATTCTCCAAGACCCATATATACGGA TGTGTGTGTGTTAGAGATAGAATCTCCCTATCTTACTCAGACTAGCCTCA AACGATCCTCCAGCCTCAGCCTCCCTAGTAGCTGCGAAGCATGCAGCTGC GCCTGACTTCCTCTAATTTTTACCGATGTTCATAGGCACATTTTTATCTA GCTATAATATAAATTGATGATTTGTTTTAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	186	0.0054	-1079	c.541 others(19): Show c.541+41165_541+42243del		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7						chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129855828	GTAACAGA others(1072): Show GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC AGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGT CCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAAC GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGAT GGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTC CGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03195.hp1 others(1): Show HG02109.hp2 HG02280.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004	a0001c0001t0007g0006 a0001c0001t0007g0020 a0001c0002t0001g0023 others(1): Show a0001c0001t0007g0006 a0001c0001t0007g0020 a0001c0002t0001g0023 a0001c0002t0004g0013	4	91	0.0440	-1079	c.79+ others(17): Show c.79+46354_79+47432del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
DIP2C_chr10_269201_694668	321885	CGAGAGAC others(1071): Show CGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACC GGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCA GTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTG TTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	79	0.0127	-1078	c.392 others(19): Show c.3924+4043_3924+5120del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
SPATA17_chr1_217626344_217876696	217703423	TGGCCTCC others(1071): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACCATGCCTGGCAT ATTTCATTACTTTTTATCCTAAATTGTCACTGACGTACAAAGTGTGATGT TGGTCAAGCTGTCTTTGGAAGACAGCTCTCTAGTATCTTTACATTTTTTT CTTTACTTTTGTAATGTCATGTTATTTTATCACAATGTATCTAAGAATTT AAAAAATATGGACTGTTTTCTATCTGATGAGCTGCCTTAATTTTATGACT CATATTTTCTTGTTTAGGAATTCATGTTTAGGAAAATTCTCAGCCATACT GCTATTGACTTGTCTCTAATCTCTAGTTTGTTTTTCAACAGCTCCTATTA GATGCATATTTTAACTTTTCTTTCTAGTCACCTTGACTTATAACATCTTT TTTATGTTTTTATTTATATTTGTGCTAGGAGTAATTTGTACCTATTTTCC AATTCATGAATTTTCTCTTTAGTTTGTTATTGTCTGCTGTTAAACTCATT TACTGAGTTTTTATTTTCAATGAATATATGTTTAAAATTTTTTGGGGGTG GGGCTCTTTTAATAAAATCCTCTCTCCCTCTTTATTTCATGTTGCTATTC TCTAGTTTCTCTTTAAACATTTTTTGTTGTTGTTGTTTCTTGTGTATTTT TAAAACTCTTTTAGGTTCAGGGTACATGTGCACCTTTGCTGTATAGGCAA ATTGCATGTCACAGTGGTTGGGTGTACAGATTTTTTCGCCACCCAGATGA TAAGTATAGCACCCAACGGGTAGGTTTTTTTATCCTAACTCTCCTCCTTC CCTCTACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	250	0.0040	-1078	c.395 others(19): Show c.395+20095_395+21172del		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF195_chr11_3352927_3384146	3367079	AGCATAAT others(1071): Show AGCATAATTTTCTTAAAAAAATTAAAAATGGAATTATATGATCCAGCAAT CCCATTTCTAGATCTATATCAAAAGTATACAAAGCAACTCAGGACTTAGA AGAGATATTTGCACACCCATGTTTACTGTACCACTATTCAGAAAAGTCAA ATGGGGGAAGCCTCAAGTGATGAACACACAGAAAAAATGTGGTATATACA TACAAGGAATATTATTCAACCATAAAAACAGTAATATGGAATTACAAAAC ACTAAGAGATGTTAGTCATAAAATCTGCTATGAAACATTGATGTACCATT AAAAAAGAATTTGCCTAGATAACTACAGTATTCAACTGTGACTGTGTAGT CATGAAAACTAGGTATTTTGAGTCACTGGCATGCAGTGGACAGCAGTAAC ATTTCACAGAAAATGCACTACAATCATTATGAAAAGACTCTACTGAGAAC ATTTTAATGACTAAGAGATACTAAAGGTAATTTTTATTATATGTTTACTA TACCGATGCTATTCTTATGCAAATTTAAAATGCTGCCATCCAACTTTTAG AAGCAAGGAATAGCCTTATATTTCTAAATAAAGAGAAAAATATAAATTAT GTAAAATATGGTGAGAGTCACTGATATATAAAATAAACATCTGGGAATAA ATCATATTATTATTTATATACAGGTTGAAGAAATAGGATAATTTAATCAA TGTGGAGTGCTTGCCGGGTGCAGTGGTTCACGCCTGTAATCCTGACACTT TGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGC CTGACCAACATGGACAAACCCCATCTCTACTAAAAATACAAAAAATTAGC CAGGCGTGGTGGTGCATGCCTGTGTGTAAATCCCAGCTACTCAGGAGGCT GAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGCCGAGA TCGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCTATCTCAA AACAAACAAACAAACAAACAAATAGTGCTTACTAAATAATTCAGACATAA CACATTAATTCTAGCATATTGTTCTGCAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp1 NA19240.hp2 HG03098.hp1 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0021 a0002c0002t0011 a0002c0002t0021	a0002c0002t0011g0037 a0002c0002t0021g0126 a0002c0002t0011g0037 a0002c0002t0021g0126	3	364	0.0082	-1078	c.226 others(17): Show c.226+2818_226+3895del		ZNF195	ENSG00000005801.18	transcript	ENST00000399602.9	protein_coding	3/5						chr11	TogoVar
CDH4_chr20_61247261_61945617	61943634	CTCTCACC others(1070): Show CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCAT TGCGACTGTATGCACCGTGGCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0005c0019 a0002c0004 a0005c0019	a0002c0004t0002 a0005c0019t0001 a0002c0004t0002 a0005c0019t0001	a0002c0004t0002g0001 a0005c0019t0001g0018 a0002c0004t0002g0001 a0005c0019t0001g0018	2	75	0.0267	-1077	c.66 others(11): Show c.6692_*7768del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					3018		chr20	TogoVar
OR2W3_chr1_247890587_247901531	247892346	AATTTGAT others(1070): Show AATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCGTTAGTTG ATGCAGTTTCTTCCTAGTCTCAATGGTCTTTACATTTTGGCATGATTTTG CAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCACTTCCTTCAGGA GCTCTTTTGGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCGTTTGCTTG TCTGTAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGG ATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTG GCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCAAGAGATCCGCTGTT AGTCTGATGGGCTTCCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGC CCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGT GTCTTGGAGTTGCTCTTCTCAAGGAGTATCTTTGTGGCGTTCTCTGTATT TCCTGAATCTGAACGTTGGCCTGCCTTGCTATATTGGGGAAGTTCTCCTG GATAATATCCTGCAGACTGTTTTCCAACTTGATTCCATTCTCCGCATCAC TTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCAT ATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTT CCCTTCTCGCTTCATTTCATTTATTTCATCTTCCATTGCTGATACCCTTT CTTCCAGTTGATCGCATCGGCACCTGAGGCTTCTGCATTCTTCATGTAGT TCTCGAGCCTTGGTTTTCAGCTCCTTCAGCTCCTTTAAGCACTTCTCTGT ATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAA CTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGAT CGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCAATCTCCATCCAGCT TTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGC TCTGCGTTTTAGAGTTTCCAGTTTTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0001c0002 a0001c0003 a0001c0031 others(11): Show a0001c0002 a0001c0003 a0001c0031 a0002c0001 a0003c0004 a0004c0005 a0004c0028 a0005c0006 a0006c0007 a0007c0008 a0007c0013 a0008c0009 a0009c0010 a0011c0012	a0001c0002t0001 a0001c0003t0001 a0001c0031t0001 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0031t0001 a0002c0001t0001 a0003c0004t0001 a0004c0005t0001 a0004c0028t0001 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0007c0013t0001 a0008c0009t0001 a0009c0010t0001 a0011c0012t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0031t0001g0000 others(11): Show a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0031t0001g0000 a0002c0001t0001g0000 a0003c0004t0001g0000 a0004c0005t0001g0000 a0004c0028t0001g0000 a0005c0006t0001g0000 a0006c0007t0001g0000 a0007c0008t0001g0000 a0007c0013t0001g0000 a0008c0009t0001g0000 a0009c0010t0001g0000 a0011c0012t0001g0000	94	386	0.2435	-1077	c.-32 others(11): Show c.-3240_-2164del		OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding					3240		chr1	TogoVar
SLC13A5_chr17_6679719_6718369	6717292	GGCTAATT others(1070): Show GGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGTGTTT CACCATATTGGCCAGGCTAATCTCGAATTCCTGACCTCATGATCTGCCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAA CCTATTTCCGATTTTTTAATTTATGAGTCTTATTTAATTATTCCCAAGAG CTGAACATGAGTTCAATTTATGCACACAGATTTTTTTACGAAAGAAAAGC CCTGCCTGTTGTCATACTTCTACTTCACAGATAACTTAAAATTTTAGCCA CATATTTCATTGCACTATAAAAAATGAAGTAATGAAAAAGAAAGTGCATC CGAATTTAGATCTTGTATTGGTAACTTACCATAAAATGCATAAAGTATAT TAGATCACGATAATTTTGTCTTGATGTGGCTACTTTTAGTAACCTATTAA GGGAGGAGACCACCCCTCATATTGTCTTATGCCCAATTTCTGCCTCCAAA GAAAGAAGTAAAAACTAAAAGGCAGAAATGAAATCCACAGGCAGACATAC CAGCGCCATGCCCTGGGCCTGGTAGTTAAAGATCCACCCCTGACCTAACC GGTTATGTTGTCTATAGATTCCAGGGATTGTAAAAATCCCTGTCCTGTTC TGTTTTGTTCTGATTACCGGTGCATGCAGCCCCCAGTCACATACCCCCTG CTTGCTCAATCGATCACGACCCTCTCACGCGCACCCCCTTAGAGCTGTGA GCCCTTAAGAGGGACAGGAATTGCTCACTCGGGGAGCTCGGCTCTTGAGA CAGGAGTCTTGCCAATGCTCCTGGCCGAATAAACCCCTTCCTTCTTTAAC TCGGTGTCTGAGGTGTTTTGTCTGCGGCTTGTCCGGCTACACTATTGTCA GATTGTCTTCTGAATTTCTCAGGTCTTACAACAGTATTTCTAAAAATATA AATCCAAACATTAGAATATACTTCTCGAACACAAAAATAAATTATTCCCT AACTTACAGTATGTTACTGATCTACATAAAACTATTTGGGAATATTTAGT TATAATGGTACATAGTATGTAACTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0380 a0001c0001t0002g0380	1	452	0.0022	-1077	c.-50 others(11): Show c.-5036_-3960del		SLC13A5	ENSG00000141485.17	transcript	ENST00000433363.7	protein_coding					3924		chr17	TogoVar
SPIDR_chr8_47255938_47741306	47331967	TTTTTTTT others(1070): Show TTTTTTTTTTTTTTTTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTATTAT ACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATG TATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCA TTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCAC AGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGT TCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACA AAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTA TATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT GGTTCCAAGTCTTTGCTATTGTGAATAATGCCGCAATAAACATACGTGTG CATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAG TAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGA ATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAA CAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTT TCCTGACTTTTTAATGATTGCCATTCTAAATGGTGTGAGATGATATCTCA TAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTC TTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTT CATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAA TTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAG TAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGAT GGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATT TGTCAATTTTGTCTTTTGTTGCCATTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 others(1): Show a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123	4	214	0.0187	-1077	c.525 others(19): Show c.525+37942_525+39018del		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
TBC1D22A_chr22_46757650_47180693	46859373	TTTTCCAT others(1070): Show TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGA CCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCG GGGCCAGAATCCTTTTCCATAAAAGTCCGCGCAGTGCTGTGCCCCTTCCC GGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTC CCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTT CCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCT TCCTGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCC TTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCC CCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGC CCCTTCCCGGGGCCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTG CCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGTGCAGTGCT GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCTGTGCCCCTTCCCGGGGCCAGAATCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	112	0.0089	-1077	c.638 others(19): Show c.638-19276_638-18200del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
NFATC1_chr18_79390930_79534323	79474220	GACGTAAA others(1069): Show GACGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTAAACC TGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGA AGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGT TCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGCGTGTTCTCTCACTG TCAACTTTGCAAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGCAAGGGAAGCG TGTTCTCACACTCACTGTCGACATTGTGAGGGAAGTGTATTCTCACGCTG TCGACATAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTAAA CCTGAGGGAAGTGTGTTCTCACACTCACTGTCAACGTTGTAAACCTGAGG GAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAGCGTGTTCTC ACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCA CTGTCGACGTTGCGAGGGAAGCGTTTTCACACTGTCGACGTAAACCTGAG GGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGTGT TCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACG CTCGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCG ACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCT GAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAA GTGTGTTCTCACACTCACTCGACGTGAGGGAAGCGTGTTCTCACGCTCAC TGTCGACATTGTAAACCTGAGGGAAGCATGTTCTCACACTCACTGTCGAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTTGTAA ACCTGAGGGAAGTGTGTTCTCACGCTCACCGTCGACGTTGTAAACCTGAG GGAAGCGTGTTCTCACGCTCACTGTCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0288 a0001c0015t0007g0288	1	320	0.0031	-1076	c.209 others(19): Show c.2092+6643_2092+7718del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
HLA-DQB1_chr6_32654467_32671657	32655740	TATTTATT others(1068): Show TATTTATTATCGGGGAACCTGCCCTGATAATCAAGTAGGTTCTTTTTTAT TTTTCCTAAGAGTCGGTCGGCTTGAGAAATAAAGAGACAGAGTACAAAAG AGAGAAATTTTAAAGCTGGGCATCTGGGGGAGACATCACACATTGGTAGG ATCCGTGATGCCCCACAAGCCACAAAAACCAGCAAGTTTTTATTAGGGAT TTTCAAAAGGGGAGGGAGTGTGCGAATAGGTGTAGGTGACAGACATCAAG TACTTAACAGGGTAATAGAATATCACAAGGCAAGTGGAGGCAGGGCGAGA TCACAGGACCACGGGACTGAGGCGAAATTAAAATTGCTAATGAAGTTTCA GGCACCATTGTCATTGATAACATCTTATCAGGAGACAGGGTTTTGAGATC AACCGGTCTGATCAAAATTTATTAGGCGGGAATTTCCTCTTCCTAATAAG CCTGGGAGCACTACGGGAGACTGGAGTTTATTTCATCTCTGCAGCCTCGA CCATAAGAGACGGCTACACCTCGGGGGTCCAGTTCAGAGGCCTACCCCTA GCTGCGCATTCTCTTTCTCAGGGATGTTCCATGCTGAGAAAAAGAATTCA ATGATATTTCTCCCATTTGCTTTTGAAAGAAGAGAAATATGACTCTGTTC CACCTGGCTCACTGGCAGTCAGAGTTTAAGGTTATCTCTCTTATTCCCTG AACGTTGCTGTTATCTTGTTCTTTTTTCAAGGTGCCCAGATTTCATATTG TTTAAACACACATGCTCTACAATTTGTGCAGTTATTGCAATTATCACATG GTCCTGAGGCGACATACATCCTCCTCAGCTGACAGGATTAAGAGATTAAA GTAAAGACAGGCATAGGAAATCACAAGGGTATTGATTGGGAAAGTGATAA GTGTCCATGAAATCTTCACAACTTATGTTTAGAGATTGCAGTAAAGACTG GCATAAGAAATTATAAAAGTATTAATTTGGAGAACTAATAAATGTCCATG AAATCTTCACAATCCACGTTCTTCTGCCATGGCTTCAGCCGGTCCCTCCG TTTGGGGTCCCTGACTTCCCGCAACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0009 a0010 a0013 a0016 a0017	a0001c0001 a0002c0002 a0002c0017 others(7): Show a0001c0001 a0002c0002 a0002c0017 a0004c0004 a0008c0008 a0009c0010 a0010c0009 a0013c0012 a0016c0018 a0017c0016	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(13): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0002 a0002c0017t0002 a0004c0004t0001 a0008c0008t0008 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0013c0012t0002 a0013c0012t0019 a0016c0018t0002 a0017c0016t0008	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(29): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 a0001c0001t0014g0021 a0001c0001t0014g0033 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0017t0002g0045 a0004c0004t0001g0002 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0008c0008t0008g0007 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0013c0012t0002g0012 a0013c0012t0019g0040 a0016c0018t0002g0042 a0017c0016t0008g0051	211	400	0.5275	-1075	c.34 others(11): Show c.3421_*4495del		HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding					3726		chr6	TogoVar
ZNF516_chr18_76352682_76500242	76393158	GGGGAAGG others(1068): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 NA19007.hp1 HG02109.hp2 HG02965.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0031 a0001c0001 a0001c0014 a0001c0031	a0001c0001t0114 a0001c0014t0009 a0001c0031t0008 a0001c0001t0114 a0001c0014t0009 a0001c0031t0008	a0001c0001t0114g0068 a0001c0014t0009g0031 a0001c0031t0008g0276 a0001c0001t0114g0068 a0001c0014t0009g0031 a0001c0031t0008g0276	3	326	0.0092	-1075	c.181 others(21): Show c.1811-13930_1811-12856del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393190	GGGTGGTC others(1068): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	291	0.0034	-1075	c.181 others(21): Show c.1811-13962_1811-12888del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
CNTN4_chr3_2093866_3062959	2385228	ACTCAGTT others(1067): Show ACTCAGTTTTTTATTTTTTATTTTTATTTCTACACTTTTTATTTCTACAG TAATATCAAATCACTTAAAACTCTCCCAACAAACAATACCTGTTTATAGT TTTGTTTATATTACTCTTGTTGCACTGAATAACCTATTAGCATACTTAAG GCAGAGTCTTTGTCCTTTTCTCCACTATTACCTGAGCAATATTCCTGGTG TCTTGTTCATAGCAGATGCTTGTATTAGTTTCTTAGGACTGCCACAGCAA AGTACCATACACAGGGTGACTTAAAATGACAGAAGTTTATTCTCTCACAC TTCTAGAGGCCAGAAGTCCAAAATCAGGTGTTGGTAGGGCTGTGCTCCGT CTGTAACCTCTAGGGGAGGGTCGCATCTCTCAGCTTCTGTTAGCCCCAGT TGTTCTGCAGCTTGTGGGAGCATAACTCCAAGCTCATCTCTCATCCTCCA TCTTCACATGCTGCATTCCCTGTATGCCTGTGTGTTCAAATTTTTTCCTC TTCTCATAAGGACATAAGTCTTATTGGATATGACCTATCCTAATGAACTC ATCTTAACTTGGTTACATTTGCAAAGACCCTGCTTCCAAATAAGGTCACA TTCACACGTACCAGGGGTCAAGACTTCAACACATCTTTTTAGCGACACAA TTCAACCCATAACAATGTTCCATCAATATTTGATAAATGAATGAATACAT GCATTCTCACTCAGCAGTCGCTCCCGAGAATCCTTCTTTTTATGTTCAGA AGAGAGGTTATCACCCCACCTTCATTTTATAGGAATTACGTCTTACTATA CCTTGCACACACTACTTATTAATTTTCATGTCACAGTATATTTGTTCATA TATCTATGACATTGGTTAGATTAGGAATTCCTCAAGTAAGGGCCTATATA TTATTTATCTTCATATCTCATTGCCTTACATGGTTCCCAGAAGGGAAAAA TGAGTGCTTATTGAACTCAAACATTCTCTGAATTCAAACTCTGAATTCAA ACATTTGCTTGAATTCTGACTGGATTATTTTCCTTCCCCACCTCAAAATT GCATTGCTGTCTGCTTGACCTTTGT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	116	0.0086	-1074	c.-89 others(19): Show c.-89+45996_-89+47069del		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24						chr3	TogoVar
MUC22_chr6_31005474_31040402	31026229	CACCACCA others(1067): Show CACCACCACAGCCTCTACCACAGGCTCTGAGACCACTACAATCCTGATTA AAGCCTCTGAGACCACCACAGCCTCTACAGCAGGTTCTGAGACCACCACC CCCTCCCCCACAGGCTCTCAGACCACCATAGTCTCTATTTCAGGTTCTGA GATCACCACCACCTCTACGGCAGGATCCGAGAACACCACAGTCTCTAGTG CAGGCTCTGGGACCACCACAGCTTCTATGGCAGGCTCTGAGACCACCGTC TCCACTGCAGGCTCTGAGACCACTACAGTCTCTATCACAGGCACTGAGAC CACCATGGTCTCTGCCATGGGCTCAGAGACCACCACAAACTCTACTACAA GCTCTGAGACCACCGTCACCTCTACTGCAGGCTCTGAGACCACCACAGTC TCCACCGTGGGCTCTGAGACCACCACAGCCTATACTGCAGATTCTGAGAC CACTGCAGCCTCTACCACAGGCTCTGAGATGACCACAGTCTTCACTGCAG GCTCGGAAACCATCACACCCTCTACTGCAGGCTCAGAGACCACCACAGTC TCTACTGCAGGCTCTGAGACCACTACAGTCTCCACCACAGGCTCTGAGAC CACAACAGCCTCTACTGCACATTCTGAGACGACTGCAGCCTCCACCATGG GCTCTGAGACCACCAAAGTCTCAACTGCAGGCTCTGAGACCACAGTCTCC ACTGCAGGCTCTGAGACCACTGCAGCCTCTACTGAAGATTCTGAAACCAA CACAGCATTTACTGAAGATTCTAAGACTACCACAGCCTCTACTACAGGGT TTGAGACAACCGCAGCCTCTACTACAGGCTCTGAGCCTACCATGGCATCC ACCATGGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCAC CAAGGTCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCT CTGAGACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCT ACCACAGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAG CACAGATTCTACCACAGGCTCTGAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(20): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02683.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18965.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA19063.hp2 NA20300.hp2	a0006 a0054 a0079 a0006 a0054 a0079	a0006c0006 a0006c0050 a0006c0078 others(4): Show a0006c0006 a0006c0050 a0006c0078 a0006c0080 a0006c0081 a0054c0091 a0079c0077	a0006c0006t0001 a0006c0006t0002 a0006c0050t0001 others(5): Show a0006c0006t0001 a0006c0006t0002 a0006c0050t0001 a0006c0078t0001 a0006c0080t0001 a0006c0081t0001 a0054c0091t0001 a0079c0077t0001	a0006c0006t0001g0021 a0006c0006t0001g0026 a0006c0006t0001g0045 others(14): Show a0006c0006t0001g0021 a0006c0006t0001g0026 a0006c0006t0001g0045 a0006c0006t0001g0046 a0006c0006t0001g0095 a0006c0006t0001g0096 a0006c0006t0001g0100 a0006c0006t0001g0101 a0006c0006t0001g0102 a0006c0006t0001g0123 a0006c0006t0002g0097 a0006c0050t0001g0044 a0006c0078t0001g0098 a0006c0080t0001g0099 a0006c0081t0001g0021 a0054c0091t0001g0094 a0079c0077t0001g0026	23	460	0.0500	-1074	c.816 others(8): Show c.816_1889del	p.Thr others(13): Show p.Thr273_Thr630del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1049/6019	816/5322	272/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar

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