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
IL3RA_chrX_1331785_1387689	1365283	AGCGGGGT others(916): Show AGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGG GGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGA GCCGGCTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCGGGGTGAGCGGG GTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAG CCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGCGCGGGGTGAGCGGGG TGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGC CGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGAGCCGGGT GAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGA GCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAG CGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAG CCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGG TGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGC GGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGCGCGGCGTGAGCCGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	108	0.0093	-923	c.874 others(15): Show c.874+79_874+1001del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
PPM1D_chr17_60595193_60671280	60611086	TCTCAGCT others(916): Show TCTCAGCTCATTGCAACCTCTGCCTCCCAGGTTCATGCGATCCTCCTGCC TCAGCCTCCCAAAGTAGCTGGGATTACAAGCATGCACCACCACCCCAGCT AATTTTTCTATTTTTAGTAGAGTTAGGGTTTCACCATGTTGGCTAGGCTA GTCTTGAACTCCTGACCTCAAGTGATCTGCACGCCTTGGCCTCCTAAAGT GCTGACATTATAGGTGTAAGCCACCATGCCTGGCCATGTTTTCTTTTTAT GAAATACCTTTTAATTTTTTTGCCCATGTTAACACTGAATTGTTTTCTTG CTGATTTGTAGAAATTCTTTATGTATTTTGTGGGGTTTTTTTGTTTTGTT GGGTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCA GCGGCACGATCTTGGCTCTGCCTCCTAGTTTCAAGCAATCCTCCTGCCTC AGCCACTTGAGTAGCTGGGATTACAGGCATGTGCTACAATGCCTGACTAA TTTTTGTGTTTTTTGTAGAAATGGGGTTTCACCATGTTTGCCAAGCTGGT CTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGCGC TGGGATTGTAGGTGTGAGCTGCCACGCCTGGCCCAAAATTCTTTATGTAT TTTGGATACTAATTCTTTGTTACAGAGTTAGCAGGTATCTTCCAGTTTTT AGTTTGTCTCTTCACTTCGTGATGTTTATTAATGAACAGAAGATGTTAAA CTTATGTAATTTTATTAATCATTTTCTTGATATCTCATGTTTTTAAAGAT GCTATTGTGTTCTCTTCTAAGAGGTATACAGCTCTGCTTTCACAATTAAG TCCTCCTATCATTTTTGTTTTTGTCCTTTACCTATGTGCTGTCCAATTGA CTGGAGTACACATGTAGCCACTGA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	212	0.0047	-923	c.472 others(19): Show c.472+10203_472+11125del		PPM1D	ENSG00000170836.13	transcript	ENST00000305921.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP1R15B_chr1_204398381_204416817	204412723	TGAGACGG others(916): Show TGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCA GCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTAAT TTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGGT CTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTTAT AGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTCAA GTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAGC CACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGTAC TATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTGCG TACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCTCA GTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATATT CAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATACAA CAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGCTG GTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAGTT CATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCAAG TACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAGAA AAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACTGG GCCTGTTCAAGGAACAACCACTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01346.hp2 HG01952.hp2 others(30): Show HG00423.hp1 HG01346.hp2 HG01952.hp2 HG02004.hp2 HG02080.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18959.hp1 NA18990.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19089.hp1 NA19240.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0017 a0004c0009t0001 a0001c0002t0002 a0001c0002t0017 a0004c0009t0001	a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0017g0033 a0004c0009t0001g0020	33	390	0.0846	-923	c.-22 others(11): Show c.-2235_-1313del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					907		chr1	TogoVar
FBLN7_chr2_112133385_112193218	112138918	GCGCCTCT others(915): Show GCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTC CCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAG CGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGG TCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCG CCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCTT CACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGT CCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCA GCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAG GTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCT CCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCT CTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCC GCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCC TCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTG TCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTC AGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCA CGCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTC TCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCC TCTCTCCAGGCCAGTGTCCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	344	0.0029	-922	c.75+ others(14): Show c.75+234_75+1155del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346341	CGAGAGCG others(915): Show CGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACC CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACC TCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAG GACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCG GACCTGGGAGGACCTCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	220	0.0045	-922	c.466 others(17): Show c.466-2304_466-1383del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346487	CCTGACAG others(915): Show CCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAG GACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACA GACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC AAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAG CAGACCCGGGAGGACCTCTGTGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0197 a0001c0001t0002g0001 a0001c0001t0003g0033 a0001c0001t0001g0197 a0001c0001t0002g0001 a0001c0001t0003g0033	4	170	0.0235	-922	c.466 others(17): Show c.466-2450_466-1529del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
TNNI3K_chr1_74230387_74549428	74447359	TAAGAATG others(915): Show TAAGAATGCTTGTGATTTTTCCAGAATCTACAATGAACTCAAACAAATTT ACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAAC AGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAA ATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGA GATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAAC AACAGGTGCTGGAGAGGATGAGGAGAAATAGGAACACTTTTACACTGTTG GTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCC TCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTG GGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCAC ACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAAC CCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG02145.hp2 others(15): Show HG01074.hp1 HG01255.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0029 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0003g0038 a0001c0001t0003g0052 a0001c0001t0005g0179 a0001c0003t0002g0181	18	192	0.0938	-922	c.201 others(19): Show c.2011+7757_2011+8678del		TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
DGKB_chr7_14140049_14907751	14211296	ATTTACTC others(914): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCGTGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	133	0.0075	-921	c.212 others(21): Show c.2123-34066_2123-33146del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
PPP1R15B_chr1_204398381_204416817	204412722	TTGAGACG others(914): Show TTGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCCC AGCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTAA TTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGG TCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTTA TAGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTCA AGTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAG CCACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGTA CTATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTGC GTACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCTC AGTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATAT TCAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATACA ACAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGCT GGTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAGT TCATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCAA GTACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAGA AAAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACTG GGCCTGTTCAAGGAACAACCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA19077.hp2 NA18985.hp2 NA19077.hp2	a0004 a0012 a0004 a0012	a0004c0009 a0012c0012 a0004c0009 a0012c0012	a0004c0009t0001 a0012c0012t0002 a0004c0009t0001 a0012c0012t0002	a0004c0009t0001g0020 a0012c0012t0002g0035 a0004c0009t0001g0020 a0012c0012t0002g0035	2	388	0.0052	-921	c.-22 others(11): Show c.-2232_-1312del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					906		chr1	TogoVar
TAF11L14_chr5_17629460_17640053	17639132	ATTTAGGG others(914): Show ATTTAGGGAAAGTTATTATGAAAAAGGCTGCTTCAACGATCTAGGTGAGA TGAATGTCAGAATTTGAGGAAGATGTTAAAATCGAGGGTGATTCCAGGGT AGACTGAGATACAGAAGTTCCAGCACACAAAGTCTTCTGTCACCCTGCCT GTCACTGAGGCACCCTGGCTCCTTTTTTACCTTGATGCCAGGGCTGAGCC TTGTTTCCATTGCCCATTTTGAAAATGGCATGAAGCCCTGTGAAGGCCCT GAGTTCACTGAACTTCTGAACCCAGGTCACAGCTGCTACCTTCATACCTC TGGCTGCATGAGAAAAAGTAAAGCAGACAAAAACAAACAAGCAAATAAAC AAAAACCACACATACAAAAGGCCCTTATTTCAATACACTATTAACAGGCT TCTCTGATACTTGTAGTAGAAATTTAATGCCCTTGTATGCAATGCACAGA CCATGCACAGAACAGGAAATCCAGTGATAATCAATATTCACAAAATAAGT TCACATTCCTGTTTTAAAAGGAGAGCTACTTTTGTAGAAAACCTTTAGGT TCACAGCAAAATTGGGCAGAAGGAACAGGGGTTCCCCGTATCCTCTTTCC CTACATCTGCATACCCCCTTCACTATCAACTTTCTGCCCCAGAGGGGCAC ATTGGCTACAGTCATTCAACCTACATGGACACATCTCTCTGACTCCAAGA CCATAGCTCTCCTTAGGGATTCACTTGGGTGTTGTACATTCTATGGACTC ACGCAAAGGCAAAATTACATGTATCCACCGTTATTGTATTCTATGGACTA GTTTCACCTCCATACAAATGCACTGTGTCCCGTCTATGCACTCCCCCTTC ACCCTTGGTCTCTTGCAACCACTCAACTGTTGATTTATTTATTTGTATTT AAAACAGGCACATCTCATTGTA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02155.hp1 others(3): Show HG00597.hp1 HG00673.hp1 HG02155.hp1 HG03927.hp1 NA18612.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	396	0.0152	-921	c.40 others(11): Show c.4080_*5000del		TAF11L14	ENSG00000250782.1	transcript	ENST00000512227.1	protein_coding					4080		chr5	TogoVar
AVL9_chr7_32490489_32593726	32510327	GCACAGTC others(913): Show GCACAGTCCTGGCAATTCTGAACTGCCCCAGTATGAGGGAAACCATCTCC CCAGGGTAAGATTTGTGAGCCGTCATGTCTGGCTGTGGGAGTCCACAGTC CTGGCACTTCTGAACTGCCCCAGTATGAGGGAAGCCATCTCTCCAGGGTG AGATTCATGAGCCATCAGGTCTCGTTGGGAGAATCCACAGTCCTGGCACT TCTGAACTGCCCCAGTATGAGGGAAGCCATCTCTCCAGGGTAAGATTTGT GAGCCGTCAGGTCTGGTTGTAGGAGTCCACAGTCCTGGCACTTCTGAACT GCCCCATTATGAGGGAAACCATCTCCCCAGGGTAAGATTTGTGAGCCGTC AGGTCTGGTTGTGGGAGTCTACAGTCCTGGCACTTCTGAACTGCCCCAGT ATGAGGGAAACCATCTCCCCAGGGTAAGATTTGTGAGCCGTCAGGTCTGG GTGTAGGAGTCCACAGTCCTGGCACTTCTGAACTGCCCCAGTATGAGGGA AGCCGTCTCTCCAGGGTGAGATTCATGAGCCATCAGGTCTCGTTGGGAGA ATCCACAGTCCTGGCACTTCTGAACTGCCCCAGTATGAGGGAAGCCATCT CTCCAGGGTAAGATTTGTGAGCCGTCAGGTCTGGTTGTGGGAGTCCACAA TCCTGGCACTTCTGAACTGCCCCGGTATGAGGGAAACCATCTCCCCAGGG TAAGATTTGTGAGCCGTCAGGTCTGGTTGTGGGAGTCCACAGTCCTGGCA CTTCTGAACTGCCCCAGTATGAGGGAAACCATCTCCCCAGGGTAAGATTT GTGAGCCGTCAGGTCTGGTTGTAGGAGTCCACAGTCCTGGCACTTCTGAA CTGCCCCAGTATGAGGGAAGCCATCTCTCCAGGGTGAGATTCATGAGCCA TCAAGTCTCTTTGGGAGAATC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp2 others(3): Show HG01106.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031	a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(3): Show a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 a0001c0001t0023g0110 a0001c0001t0031g0291 a0001c0001t0031g0292	6	328	0.0183	-920	c.93+ others(17): Show c.93+14600_93+15519del		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82975039	CCAGGGCC others(913): Show CCAGGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGACCAGAGGCC ACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGG GGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTC CATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACA GAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAG GGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTA TGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACC AGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCC TCCCAGGGGCTGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGC CGAACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCC CGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAG AGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGG CCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCA GGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACT CCATCCTCCCAGGGACCAGAGGCCACTATGGGGAACGAGGGCCCCGGGAC AGAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAAACA GGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACT TATGGGGAACGAGGGCCCCGGGACAGAGCCAGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0014 a0001c0011t0030 a0001c0003t0014 a0001c0011t0030	a0001c0003t0014g0193 a0001c0011t0030g0144 a0001c0003t0014g0193 a0001c0011t0030g0144	2	266	0.0075	-920	c.460 others(18): Show c.460-10213_460-9294del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
COL11A2_chr6_33157694_33197467	33158143	GTGAAGTG others(913): Show GTGAAGTGGCCAAGACCTGGAACATGACCTTTACATGAGCTGCTGTACAG CCAGTGTGGCTTTTATCTGTTGTACTTTGGGAAATCATCCATGCCTCAGG AACCAAAAGTCCTTCAACCTAGAGTAAGGCGTTTTTAATAGAAAGAGAGG CCAGATAGGCCAGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAAACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATAAAAAAAAATAGCCGGGCG TGGTGGCGGGCACCTGTAGTCCCAGCTTCTCAGGAATCTGAGGCAGGAGA ATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCAC TGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCAAAAAAAAAAAA GAGAGGCCAGATAATCCCAGCACTTTAGGAGGCTGAGGCAGGGGGATCTC TTGAGCCCAGGAGTTTGAGACCAGCCTCGGCAACATGGAGAAACCACGTC TCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACTCGCCTGTAG TCCCAGCTACTCAGGAGGCTGAGGGGGAAGAATCACCTGAGCATAAGAAG TCAAGCCTATAGTGAGCCATGATTGCACCACTGCATGCTAGCCTAGGCAA GGGGAGTGAGACCCTATCTCAAAAACAAAAAACAAACAAAAAAAGAGAGG CCAGAGCGAAGTACACAAAATGGATTGACCTGCTCCTGCCAACTGAGGGA AAGCCAGACAGGGTGATATGCTGGCTCTCGCTGAAGCTGAGAGCTGTGTT CATTCTACCATCCTGGCCGTGTGGGGAGAGCCCTAAAGGAGAAGCCCATG TAGATATCCTTGGTCTTTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(108): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0010 a0012 a0013	a0001c0001 a0001c0027 a0001c0031 others(11): Show a0001c0001 a0001c0027 a0001c0031 a0001c0032 a0002c0002 a0002c0005 a0003c0030 a0004c0007 a0007c0015 a0007c0034 a0010c0023 a0010c0026 a0012c0029 a0013c0028	a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 a0001c0031t0001 a0001c0032t0001 a0002c0002t0001 a0002c0005t0001 a0003c0030t0001 a0004c0007t0001 a0007c0015t0001 a0007c0034t0001 a0010c0023t0001 a0010c0026t0001 a0012c0029t0001 a0013c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0141 a0001c0001t0002g0005 a0001c0001t0002g0050 a0001c0027t0001g0136 a0001c0031t0001g0144 a0001c0032t0001g0082 a0002c0002t0001g0011 a0002c0002t0001g0115 a0002c0005t0001g0139 a0003c0030t0001g0097 a0004c0007t0001g0027 a0004c0007t0001g0035 a0004c0007t0001g0075 a0004c0007t0001g0085 a0007c0015t0001g0032 a0007c0034t0001g0060 a0010c0023t0001g0133 a0010c0026t0001g0143 a0012c0029t0001g0080 a0013c0028t0001g0068	111	366	0.3033	-920	c.46 others(11): Show c.4615_*5534del		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding					4550		chr6	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(913): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	86	0.0116	-920	c.-18 others(10): Show c.-1829_-910del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					557		chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346013	CGGCTGAG others(913): Show CGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAGCAGACCCGGGAG GACCTCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGA CCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCC TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGA TCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTG GGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGG AGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	264	0.0038	-920	c.466 others(17): Show c.466-1974_466-1055del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737086	GTGTGAGT others(913): Show GTGTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGC ATGTGACCATCCGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGTGACC GTCCGTGTGAGCGTGTGACCATCCGTGAGAGTGTGACCATCCATGTAAGC ATCCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGA GTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGT GTGAGCGTGACCGTCCGTGAGTGTGTGACCGTCCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGTGT GTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGTGACCGT CCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGTGACC ATTCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGT GAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGA GCATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCC GTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCC GTGTGAGCGTGACCATCCGTGTGTGTGACCATCCGTGTGAGTGACCATCC ATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGACT GTCCGTGTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGA GCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGAGC ATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGT GTGACCATCCATGTGAGCATC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0023 a0001c0004t0006g0023	1	234	0.0043	-920	c.603 others(17): Show c.603-6241_603-5322del		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA8_chr1_1347691_1363555	1349974	TGGGAGGA others(913): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	89	0.0112	-920	c.27 others(11): Show c.2710_*3629del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2716		chr1	TogoVar
PPP1R15B_chr1_204398381_204416817	204412723	TGAGACGG others(913): Show TGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCA GCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTAAT TTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGGT CTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTTAT AGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTCAA GTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAGC CACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGTAC TATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTGCG TACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCTCA GTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATATT CAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATACAA CAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGCTG GTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAGTT CATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCAAG TACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAGAA AAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACTGG GCCTGTTCAAGGAACAACCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG04199.hp2 HG01109.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0002 a0001c0002t0013	a0001c0002t0002g0002 a0001c0002t0013g0032 a0001c0002t0002g0002 a0001c0002t0013g0032	2	359	0.0056	-920	c.-22 others(11): Show c.-2232_-1313del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					907		chr1	TogoVar
VAV2_chr9_133756894_133997324	133827242	CCACTGAG others(912): Show CCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp1 NA20300.hp1 HG01433.hp2 HG02559.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0002 a0002c0001t0001 a0001c0004t0002 a0002c0001t0001	a0001c0004t0002g0029 a0002c0001t0001g0085 a0002c0001t0001g0178 a0001c0004t0002g0029 a0002c0001t0001g0085 a0002c0001t0001g0178	3	188	0.0160	-919	c.449 others(17): Show c.449+6111_449+7029del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ADARB2_chr10_1172313_1742525	1459909	CAGCAAAC others(911): Show CAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGT GACCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTG CGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACC TGCGTTACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGC CTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAATTTA CCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCT GCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTT TACCTGCATAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAAC CTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAA TTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGA ACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACCTG AGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAAC GAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACC TGAGTTTACCTGCGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGTGTA ACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGA CCTGAATTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCG TAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGTCTGT GACCTGAGTTTACCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0034 a0001c0001t0030g0034	1	101	0.0099	-918	c.101 others(19): Show c.101-81667_101-80750del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AFDN_chr6_167821911_167977023	167940593	ATGTGTGG others(911): Show ATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCA CAGGAGACATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGACAC AGAGAGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGG ACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAG ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATC CACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGG AAACCATCCACAGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18946.hp1 NA18982.hp2 others(1): Show HG02074.hp1 NA18946.hp1 NA18982.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0245 a0001c0001t0002g0262 others(1): Show a0001c0001t0002g0110 a0001c0001t0002g0245 a0001c0001t0002g0262 a0001c0001t0002g0265	4	323	0.0124	-918	c.310 others(19): Show c.3100-2494_3100-1577del		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
DMD_chrX_31114222_33216549	32864316	ACTAATTT others(911): Show ACTAATTTGGACTTAGGCAGTGTATCTACAGATCTCTACACCATTCTTTA CTTTGCAACTGCTGTTTAAGCTGGGCTTGACTATCATCACATTCAGGGGC AAGGGTTAGGTGAGTTTTACTTGAGCCTTTACGTCATCTTTTCTACAAAG ATAGTTTAATATATCTTTTCTTTCTTCTATCATTTCCAAAAGGTCAGATA CAGTTATATAGCCTGCCAATAAAATTGCTCCTAATTGTAGGTCCCATTTG TAATGGAAAGATAGTAACAGTGATAATTCTACATATATACATTAGGAAAA TTCTTCAAAGTCCCAAATTCCTATTGTTATATCATTTGACATCGGGGGTT TCATTAACTCCTCAGGACTCCAGTGTGCTCAGCAGACTCAATTACTAAAT ACTATTTTAGAGCACACTGCAAATTGTTCGAATGTATAATTCACTCTAAT GTATTTGAAAAATGTGGCTTTTTATATTAACTAAAGAAGAAATATCATTC AACAAAAACTTAAGGCTATATAAATCAAAATATAAGAAATATAATCCTTG AAGTTGATAAGGATTAAATGAGGTAGTAGTAAACAGAAGAAAAAGTTTAA CTAGGGCATTTAGTGTAGCCATTTCTTAAGATCCACTGAAAAGTGCCAGT TCCTTACTTGAAAGTCTTCCATGTGAGATTCGGTGTAGTTGTAAGTTAAA TAATATAGTATCTGGAAGCAAATAGGCCTTTATTTATTACAGTTCTATAA TTTAAATTTTGCCAGTTGTGTGAACACTGATAAATTACATAGCACTTGGC TTATTTTCCTTATGTGTCAGACGAGGGGGATAGTCATTCAACTAAATGTA ACCAGTATTATGCATCATACTGTCCTAAGAAAAATGGGAAGATAAAAGAT AAAAACATACTGCCACTGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0116 a0003c0008t0003g0116	1	126	0.0079	-918	c.94- others(17): Show c.94-15414_94-14497del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DPH7_chr9_137549444_137583925	137566336	TCTGTCTG others(911): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	334	0.0030	-918	c.641 others(17): Show c.641-2100_641-1183del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
MPPED1_chr22_43407014_43512848	43496021	GGTGATGG others(911): Show GGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGG TGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGT GATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGG AGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTG GTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGAT GGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGG TGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTG GTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGT GGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGG TGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAG ATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGA GATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGG TGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTG GTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0134 a0001c0001t0016g0134	1	224	0.0045	-918	c.633 others(17): Show c.633-2210_633-1293del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR1_chrX_150688396_150770108	150759458	ATCTGGAG others(911): Show ATCTGGAGTGCCTTTGGCTAAACAGAGCCTCTCGATTACTGCAGGAGACC CCCGTACCCCTGCCACGCTCCCCCTTGTGCAGCAGGTTGCAGAGGTGAAG AAATGCTGAACCAGCAGAGAGGGTTAGAGTGGTGTCCCACAGGGGTGCAC CCAGGCTCAGATTCTTGCCCGCCGCGTGAGGCAGGTAACAGACCTTTCCT AAAACCTACAAACTGCGCGACAGATCTGTTCCCAGATGTGGTCAGGTTCT CACTCATGTAGGCGAAGCCACCTGCAACATCATGATGATGATGGAAACCA CAGCGACAGCGCCTATAACCTGCAGTCCTCTTGTGTGCCAGTGGGTTCTG TACACACATGATCCCAGTTAACGCTCCCAGCAATTCCACGACGTAGAGAA TGAGGGAAGGGTCAGAGAAGCAGTGACTTGGTTGAAATCTTGCTGCCCAG TGCGTGTAGTTGTGGAAGGATGCCCCCGACAGGGCCAGATCCCGTCTCTG GCAGTGACTCACCGCCTGATCTGCAGCAGGGTCCTGAGCCTCACGGGGAC CTCACAGGGGGTTGCTGAGCAGGAAGTGAATCCATTCCAAGTGCACTGTG CTCGGAGGGTAGTAGGTGTGTGGTCCTGCTTTTTGCATTCTCCCTCCATT GTGCTACACAGAAGAGAGAACCAAAAAAGAGTACATGGGCCGCAGCTTGT TATCCTGTATGCAACAGGCATGTGTCGGACACCTCCTAGGTGTGGGAATG GGGGTGGGGGAGTGCATTGAAGACAGGCAGAGATCAGTGGCTGGTGTGGG TGTCCAGTGACAGGGCCTGAGGAGCCAGGTGAGGCAGAGAGAAGGAGGAA GAGAGGGGAGGGGAGGGAGTGCAGGGGGGTAAACGACAGGGCAGATGCAA GCCTGTTGGGCCTCTTTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01496.hp1 HG00099.hp1 HG01109.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0086	3	268	0.0112	-918	c.185 others(19): Show c.1858-3102_1858-2185del		MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	15/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
RASA3_chr13_113972783_114137623	114083770	ACGGGGAA others(911): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CGTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	46	0.0217	-918	c.56- others(16): Show c.56-10851_56-9934del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114085876	CCGGGGAA others(911): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp1 NA18975.hp2 HG01175.hp1 HG02148.hp1 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0058 a0001c0002t0002g0055 a0001c0002t0002g0062 a0001c0002t0001g0058 a0001c0002t0002g0055 a0001c0002t0002g0062	3	61	0.0492	-918	c.56- others(17): Show c.56-12957_56-12040del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086021	GTCCTCGC others(911): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0011 a0002c0004t0009g0011	1	45	0.0222	-918	c.56- others(17): Show c.56-13102_56-12185del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086038	CCGGGGAA others(911): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	46	0.0217	-918	c.56- others(17): Show c.56-13119_56-12202del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
ZNF512B_chr20_63951704_63974930	63964828	CACCACTG others(911): Show CACCACTGTTCCCCGACCTGGGACAAGCCCCCATACCTTTTCTTACCACT GTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCT GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGG GACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGC CCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTT TTCTCACCACTGTTCCCTGACCTGGAACGAGCCCCCATACCTTTTCTCAC CACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTT CCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGAC GAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCC CATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCT TTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTA CCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGT TCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCT CCCCAACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCC GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGG GACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02717.hp2 others(3): Show HG02257.hp2 HG02622.hp2 HG02717.hp2 HG03453.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0014 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0014 a0001c0005t0002g0116 a0001c0005t0002g0117	6	312	0.0192	-918	c.103 others(17): Show c.1034+395_1035-113del		ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16						chr20	TogoVar
GAL3ST2_chr2_241771822_241809287	241806501	TCCCCCCT others(910): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAGCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	274	0.0036	-917	c.23 others(11): Show c.2336_*3252del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2215		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806501	TCCCCCCT others(910): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAGCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA18951.hp1 HG01257.hp2 HG01258.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0065 a0002c0003t0002g0005 a0001c0002t0001g0065 a0002c0003t0002g0005	3	288	0.0104	-917	c.-27 others(11): Show c.-2776_-1860del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2691		chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(910): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCC CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCT GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACC CTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCC CCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTC CGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0165 a0001c0026t0001g0165	1	254	0.0039	-917	c.121 others(18): Show c.1214+228_1214+1144del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291455	CCCCGTGT others(910): Show CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCC TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCC TCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCC GTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCC CCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTC CCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	278	0.0036	-917	c.121 others(18): Show c.1214+127_1214+1043del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ABCA1_chr9_104776006_104933155	104833906	CTGCACAG others(909): Show CTGCACAGATGTGCTGCCGGAAAAACAGCAGCTGCAAACTCAGCAAAAAG GAGAGGCATTTGCAACTCCTGTCACAGCTTCGACAGAGAAGATGAAGCTC TGGTTCTACCGAATTGGAGTCTCCAAGGGTCTGAAAACTGCTGCTTTATA AAAAAATCAGTCTTAGTTTCACTAACATTATAAGCTTTTCCCCCCTTGCG CCTTTGTATTTATTATTTCAATGGCAGCATAATGATTGTATAGAGTATAT GTAATTTCATTAATTATTCCTATAGTGCTGAACATTTAGTCTATTTCCAA TTTCTCACAATAACAATATAGCAATAACATTTTCTCTCATATGGTGACTT CTTTAAAATTATTTCAGTAGGCTACATCCCTGGGGGTGGGTGGAATGGAG GTACGCAGGATAGCATATTTTAAAATGGTTCTTTAAATTTTCATTCCAAA TTGCTTTCCAATAGAGAATAGCAATTTATACCATCACCAGGAAGGTATGT ATGTATTTTTGTTAACATAACAGACACAAAATTGTACCTCACAAGTTCAC AGAGGCTAGGGTTAGCAATTCTGAAGCCACTTTATTTGGAACAAACAAAA GCAGAGTGAAGAGACGCAGCCTTTAGGGTGAAGTCGGCCCTGCCCAGTAT GGTTTCTGAACAACATGGCCAAAAAGAATAGCAAGACTAGAAAGATGCGC CCACTGAGATCACTGAGCACGTGGCCTCTCTGGGGTGCTCGTGAGGGGCA GGAGACCTAAGACTGCCCGCAGGGGTGGAGGCAGAGAGAAAACAGGTCCC GAGGATGGGTGGCTAAAAGCAGCTCAGAAAAGAGAGCAAATCAGTGTCAG AGGGTTCCAAGACTTGCCCGAGAGAGGTGCCCTGGGACCTGTGGGGTGAG GCAACATGGGTAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp1 others(40): Show HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01346.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp2 HG02602.hp1 HG02818.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp1 HG03927.hp1 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18962.hp1 NA18970.hp1 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19060.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19091.hp1	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0032	a0002c0011 a0002c0015 a0002c0037 others(8): Show a0002c0011 a0002c0015 a0002c0037 a0002c0059 a0002c0075 a0003c0002 a0003c0009 a0003c0038 a0003c0076 a0011c0040 a0032c0083	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(23): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 a0002c0015t0004 a0002c0037t0011 a0002c0059t0001 a0002c0075t0027 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0003 a0003c0076t0002 a0011c0040t0029 a0011c0040t0040 a0032c0083t0001	a0002c0011t0004g0113 a0002c0011t0004g0177 a0002c0011t0004g0269 others(40): Show a0002c0011t0004g0113 a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 a0002c0011t0007g0159 a0002c0011t0012g0135 a0002c0011t0020g0226 a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0037t0011g0126 a0002c0059t0001g0290 a0002c0075t0027g0153 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0070 a0003c0002t0002g0071 a0003c0002t0002g0122 a0003c0002t0002g0127 a0003c0002t0002g0169 a0003c0002t0002g0227 a0003c0002t0002g0239 a0003c0002t0002g0261 a0003c0002t0003g0128 a0003c0002t0007g0058 a0003c0002t0010g0184 a0003c0002t0014g0067 a0003c0002t0028g0175 a0003c0002t0050g0069 a0003c0009t0001g0193 a0003c0009t0003g0074 a0003c0009t0003g0140 a0003c0009t0003g0233 a0003c0009t0003g0265 a0003c0009t0006g0241 a0003c0009t0046g0274 a0003c0009t0051g0148 a0003c0038t0003g0217 a0003c0076t0002g0131 a0011c0040t0029g0002 a0011c0040t0040g0052 a0032c0083t0001g0312	43	316	0.1361	-916	c.131 others(19): Show c.1312-2051_1312-1136del		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	11/49						chr9	TogoVar
ARHGEF10_chr8_1818926_1963641	1888932	GGTCTGTG others(909): Show GGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTG AGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGG AAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGG GTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACT GTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGG AGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTTGT GAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGGTG AGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTG AGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTGAG GAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAGGGG TCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAG TGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAG GAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGA GGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCA TGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTG AGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGG TTGCGAGGAGACATTGAGTGGGATGAGGGTTGTGAGGAGACACTGAGTGG GGTGAGGGTTGTGAGCAGACACTTCATGGGAGGAGGGTTTGTGAGAAGAC ACTAGGTGGGGTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02559.hp1 others(18): Show HG01496.hp1 HG02486.hp1 HG02559.hp1 HG02738.hp2 HG02922.hp1 HG03098.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18983.hp2 NA19009.hp2 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp2 NA19085.hp2	a0001 a0004 a0022 a0001 a0004 a0022	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0018 a0001c0020 a0001c0026 a0001c0085 a0001c0092 a0001c0096 a0001c0111 a0001c0143 a0004c0051 a0022c0142	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(16): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0039 a0001c0008t0002 a0001c0009t0002 a0001c0012t0008 a0001c0018t0009 a0001c0018t0025 a0001c0020t0009 a0001c0026t0007 a0001c0085t0001 a0001c0092t0011 a0001c0096t0033 a0001c0111t0013 a0001c0143t0001 a0004c0051t0004 a0022c0142t0007	a0001c0001t0003g0109 a0001c0002t0001g0053 a0001c0002t0001g0071 others(18): Show a0001c0001t0003g0109 a0001c0002t0001g0053 a0001c0002t0001g0071 a0001c0002t0001g0341 a0001c0003t0001g0030 a0001c0005t0001g0080 a0001c0006t0039g0160 a0001c0008t0002g0036 a0001c0009t0002g0029 a0001c0012t0008g0348 a0001c0018t0009g0287 a0001c0018t0025g0297 a0001c0020t0009g0288 a0001c0026t0007g0307 a0001c0085t0001g0207 a0001c0092t0011g0180 a0001c0096t0033g0132 a0001c0111t0013g0138 a0001c0143t0001g0028 a0004c0051t0004g0285 a0022c0142t0007g0311	21	336	0.0625	-916	c.118 others(19): Show c.1182+3226_1183-3721del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28						chr8	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(909): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00735.hp2 others(28): Show HG00408.hp1 HG00423.hp1 HG00735.hp2 HG00741.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02293.hp1 HG02293.hp2 HG02717.hp1 HG03491.hp1 HG03942.hp1 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18954.hp2 NA18962.hp1 NA18978.hp2 NA18993.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp2 NA19089.hp1 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0007c0024 a0012c0021	a0001c0001t0001 a0001c0005t0002 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0005t0002 a0001c0006t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0007t0001 a0007c0024t0001 a0012c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0005t0002g0019 a0001c0006t0001g0010 a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0002t0001g0060 a0003c0003t0001g0007 a0003c0003t0001g0034 a0003c0003t0001g0068 a0003c0003t0001g0082 a0003c0003t0001g0083 a0004c0004t0001g0006 a0005c0007t0001g0014 a0007c0024t0001g0110 a0012c0021t0001g0066	31	43	0.7209	-916	c.127 others(19): Show c.1273+1295_1274-1545del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
DOC2B_chr17_137789_186650	170943	CAGCACCA others(909): Show CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGG GCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCA GGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGA GCACCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCGGGCCA GGTTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCAC CAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCT GCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGC AGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGG GGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAG AGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGG CCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAG GGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGG GCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0045 a0001c0001t0006g0046	2	332	0.0060	-916	c.453 others(16): Show c.453+678_453+1593del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806496	CTCCCTCC others(909): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGG ACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	294	0.0034	-916	c.23 others(11): Show c.2331_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2210		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806496	CTCCCTCC others(909): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGG ACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	299	0.0033	-916	c.-27 others(11): Show c.-2781_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2696		chr2	TogoVar
SFXN1_chr5_175473560_175534742	175496756	GAATCCCT others(909): Show GAATCCCTAAATGTCTCCCTTTTTTTTTCTCTTCACCTTTTTAGAGCATA TAGACCCTTAAAGTCTGGGTGATAAATTGCCTAGGCCTGTTCCAAATTAG CTTTGGGGTATTTGTTAGGTTCTGTGCTGATAGATACTCTTTCTTTTTTT TTTTGAGATGGAGTCTTGCTCGGTCACCCAGGCTAGAGTGCAGTGGCACA CCAGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCCTGCCT CAGCCTCCCAAGTAGCTGGAATTACAGGCACCTGCCATCATGCCCAGCTA ATTTTCATGTTTTTAGTAAGACGGTGTTTCACCATGTTGGCCAGGCTGGT TTTCAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTCC TGGAATTACAGGCGTGAGCCACCATGCCTCGCCTATATACTTTTATATAT ATAAATCAGTAAGCCAGTTGTTAAATCAGTATGTAAGAAATAACTCAGAG TTTCCTACCTCCCCATCAAGAGATAAATCAGCCATGAGCCTTCAGGGGAG ATTAGTTCAAGGGCTAGTTAGGGTTGAAGAGGTATCATGTTTTAAGTATG ACTGCCAATATATAGTTCTAGTGGGATACCCACAATGCTATTTGAACAAT GCTATATGAACCAAAAAGAAAGTAATAAAAATGGCTAACATTAAAAAGCA GGACAAAGGTAATTGCAAATAAAAAGTAGGAAATTACAATTCTGGGCAAA TAGATCCAAATATTTTGATATTGATAAAGATATAGTGAATGCCGAACAGA CAGTATTCATGAGCCAGTGGTGTTCCATCAAAATATACAAAGAAAGGGTG GTTAGCAATACAAATAGAACTTGATTAAAACACAATCACAGGGCCGGGCG CAGTGACTCACACCTGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0139 a0001c0001t0016g0139	1	370	0.0027	-916	c.164 others(17): Show c.164+4496_164+5411del		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79920303	GGGGAGAG others(909): Show GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGG TCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCG AGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA GGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGG TCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTC AGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGAC AGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGG GAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp2 HG01884.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0185 a0001c0001t0009g0267 a0001c0001t0009g0185 a0001c0001t0009g0267	2	347	0.0058	-916	c.392 others(16): Show c.392-1819_392-904del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
ADARB2_chr10_1172313_1742525	1235693	CCTCCCGG others(908): Show CCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGG TGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCC ACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTG CTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGC CAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGC CTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAA GGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAA CGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCC CAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCT GTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCT GAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGAC CCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCC TGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCT CTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTC GGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG01884.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0033 a0002c0002t0038 a0001c0007t0033 a0002c0002t0038	a0001c0007t0033g0041 a0002c0002t0038g0048 a0001c0007t0033g0041 a0002c0002t0038g0048	2	102	0.0196	-915	c.136 others(19): Show c.1362-2763_1362-1849del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ARHGEF38_chr4_105547620_105685914	105580519	GTGGTTCT others(908): Show GTGGTTCTGGGCAATTTTCTTGGTCATTAATTCTAATTTTATTGTACTAT GGTCTGAGAGAGTGGTTGGCAAAATTTCAAGGATTTTTGTACATGTACTG AGCATAATTATATGTCTGATTTTGTGGTTGATTTCAGAGTATGTGCCGTG TGGCAATGAGAAGAATGTATATTCTGGTTTTTTTGTTTGTGTCTTTGTTT GTTTGTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCA GTGACACTATTTCAGTTCACTACAACCTCCACCTTCCTGGTTCAAGCAAT TCTCCACCACTAAGCCCGGCTAGTTTTTGTATTTTTAGTAGAGGCGGGGT TTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCA CCAACCTCGGCATCCCAAACTGCTGGGATTACAGGCATGAGCCACCAAGC CGGGACTATTCTGTTTGTTTTTTGGTGGAGAGTTCTGTAGAGGTCTAGAG GGCATAATAGAGACTGTAAGGAAGAAGCATTATTTGAAGTACTCCTTGTC TGTTTAACTCACCCCACCTGCAGGAGTAGTTGGAGGCCAAGAACAAGTCC CGGTGCCCCGTAGCCCCATACAGGATTCCCAGCTTTCTCTGCCTTGAGCC CAGCATCTGTGGCTTCCTTCTGTCCCCTCTCAATGCCTTTTCTTTGAAGA TTTACTAGGAGTGCACCAGTCTTCCCAGTGTTTTGGTCACTTGGTGGGAG ATGTTTCTCCTGCTTGCATGTAGTTGGCCATCTTGGAATGAACTCAGGAA TAGCATCTTTCAAAAATTCTGAAAAGCTCCCAGCTTTGAGCACTTCAAAT AATGTTCTTCCTTACATTCTCTATTATACCCTCTAGACCTCCTAGTAAAC ATTAGTTGAACCTTCT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	184	0.0054	-915	c.197 others(17): Show c.197-8727_197-7813del		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDC23_chr5_138182650_138218323	138196835	CTCCCAAA others(908): Show CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTTTTT TTTTCCTTTTTTTTTTTTTTTTTTTTTTTAAATAGAGACAGGGTCTCACT GTCTAAAGCCAGATGGGGTTGCCCAGGCTGGACTCGAACCCTGGGCTGAG GCCATCTCCTGCCTCAACCTCCCAAGTCACTAAGACTACTGAAGCTAGTA ATTATGCCTGGCTTCCTTTGATTTTAACTGTCTCTGTTTTAAAAAGAACT GTTAAAAATATGTTTAAAAAAAAAGAATCGTTGTAGTAGTAGAAACCCAG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTAAACCCGGGA GGCAGAGCTTTCAGTGAGCCAATGGCGCCACTGCACTCCAGCCTGGACGA CAGAGCGAGACTCTGTCACCAAAAAAAAAAAAAAAAAAAGTACATCTATA AAATGCTAGTCATCAAAAATAATACAAGTTTAAATGTACTAACATGAAAA GATGGCAAAGATATATCATTAAGTTAAAAAAAAGGAAGTTAGATAGCACT ATGTATAATGATACAGTTTTGGCAAGCAAACAATATAGACGTAACATGTA ATACATATTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTAT CGCCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCAC CTCCCGGGTTCATGTGATTCTTCTGCCTCAACTTCCCAAGCAGCTGGGAC TACAGGCACATGCCACCACACCCGGCTAATTTTTGGATTTTTAGTAGAGA TGGGATTCCACCATATTGGCCAGGCTGGTCTCGAATACCTCACCTCATGA TCTGCCTGCCCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02886.hp2 others(5): Show HG02451.hp1 HG02572.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0126 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	8	390	0.0205	-915	c.101 others(18): Show c.1012+449_1012+1363del		CDC23	ENSG00000094880.11	transcript	ENST00000394886.7	protein_coding	9/15						chr5	TogoVar
CPEB1_chr15_82538201_82652363	82645354	TGTTGGCC others(908): Show TGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCGCCT GGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGTCATGGGGCCGGGCCG TACTTTTTTATTACAAAGGTTGACTTACACACAGAGTAGTCAACTTCCAA ATCCTACTTCTATAAACTGAGCAGGCACTACCAGGCCACCCAAAGTTTAA ATCGCCGTGACAAAAAATTTAAAAAGCGAAACTCAGCCAGGCAAGGGGGC TCACGCCTGTAATTCCAGCCCTTTGGGAGGCCGAGGTGGGCGGATCACGA GGTCAGGAGTTCGAGACCATCCTGGCTAACATGCTGAAACCCCATCTCTA CTAAAAATACAAAAATCAGCCGCGCGTGGTGGCACGAGCTTGTAATCCTA GCTACACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAG GCTGCAGTGAGCCAAGATCGCGAGACTGCATTCCAGCCTGGGTGACAGGG CAAGACTCCCTCTCAAAATAAATAAATAAATAAATAAATATTAAAAAATA AAAAGCCAAACTCCTACAGCAACGTGCTCTGGGAATACAGTTCAGCTCCA AGCCAGCTCAATGGGGACAAATAAAAGACCAGTGATGAGTCCCCAAAACA CCGTCCCCAGGGTTTTCCGACAGCCAGCAGCCCCATTGAGCTCCACAAGC TTTTCTAACTATGCAAAAAACCAACCAGGAAAACAATCACCAACTTGAGG TTTCCAAGGTTGGGTCCTGTTTGAATTTATTTTTATTTTTTAACCCAGCA TGTGTCCCTAGACTCAAAGGGAACATGAGCCTCAGGGTGCAAACTGTCCT TAGCAGACACTCTTCCCGCTAGCAAGGGACCGCACCGTCACCTGAGGGGC AGCCAAGAGGCGGGCG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	352	0.0028	-915	c.-98 others(16): Show c.-98+868_-98+1782del		CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	1/12						chr15	TogoVar
DIP2C_chr10_269201_694668	322468	TCCGGCGA others(908): Show TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCC GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACC AGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCG GCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGG CGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGC GCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCG CTGTTAGAACAGTCAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	88	0.0114	-915	c.392 others(19): Show c.3924+3623_3924+4537del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
OR5P3_chr11_7819818_7835840	7825116	TTCAACAT others(908): Show TTCAACATGGGAATCACCACGGTGTAGAACACAGACACCACCTTGTTCTG GTCAGTTGAGTAGCTGGACTTGGGCATCACATAAATGAAGGTAATGGTCC CATAGAACAGAGTGACTGCAGTGAGGTGGGAGGTGCAGGTGGAGAAGGCC TTGTGGCGGCCCTTGGTGGAGTGCATCTTCAGGATGGTGATGAGGATATA GATGTAGGATATGGCTATGACACACACAGTGGCCACAATGATAGATCCAG AAGAGATAGCTGGAATTATTTCAAAAGTAAAATCATGGGAACAAGCAAGC TTCAAAAGTGGTGAATAGTCACAGAAAAAGTGATTGACTTTATTTGGCCC ACAGAAGGACAGTCTTAATAAGCAGCCAATGAATGTCCAAGCATTCACAC ATCCACCCAGGTAGGACATGCCCACTAAGATGATGCAGACTCCAGGGGAC ATGCAGGTAGAGTAGAGCAGGGGTGAGCAGATGGCCACATAGCGATCATA GGCCATGGCAGCCAGCAGGAAGCACTCGGCCGTACCAAACGTCACTACAG AACAGAGCTGGGCCACACAACCAGCAACAGGGAGAGAGGTTTCTTTCCTT AGGAAGCTCATGAGCATGACAGGTGTGACTGATGAGGAGTACCCAATGTC TACAAAGGCCAAATGGCAGAGGAAAATGTACATGGGTGTATGAAGATGAT GACTTCTTCTGATCAATACAATTATGCTGATATTACCCATTAAGGTGACA ACATAAATTCCTAGAAACACAAGAAATAAAATAGCACAAACTGTAGTATC CTCAGATAACCCCAAAAGAGTAAACTCTACCACAGTGGTGTCATTTCCAG TCCCCATCTATATTGGGAATGGTGCCAACTGAAAGAAAAACAAATGAATA TTATAATGGGATTAAA	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0007 a0003c0003t0003g0025 a0003c0003t0003g0026	12	422	0.0284	-915	c.-21 others(10): Show c.-21-38_856del	p.Met others(3): Show p.Met1fs	OR5P3	ENSG00000182334.3	transcript	ENST00000641167.1	protein_coding	2/2	894/1193	1/936	1/311			chr11	TogoVar
SCEL_chr13_77530706_77650263	77597135	TGTATGAA others(908): Show TGTATGAACACTGTATTAAAACACAGAAGTGTGTCTGATGTAAAATACAG TTCTAAATTTTAAGTGGTGTGCATATGTGTGCCTGTGCTGAGGTAGGAGC ATTAACATGAGACCAGTGTGCAATGGCTATAACTCAAAGTATAGTCACAG AACTGTCATAAAGCAGGTGCAGAAAAAACAAATGCTGCAAGGGCTCCAAA AATGTAGAGGACTCTATTCAGTTAGAGGACTAGGAAAGGCTTTCTGGAGA AAGTGGTGTTGGATGCGAGCTTTGAGGATCATCAGGATTTTCGCAGATGA TAAAAGTGGGATGTGTTGTATTTCAGAGAACTGTCATTTTAAGGCAAATT TACCCTTTGACCCTGGGCAAGCTTTTTACTAATGTTAAACATTTTTTTCT CTTCCCAAAGTGAAGAATTGGATAATCTCATCAAAATGAACAAAAGCTTG AATAGGTAAGATTTTTAAATGTTTATCTTTTATTACTGAGTTGCATATTG TGACTTTTTATGCCTTTCCAGTCTTTGAGCGTGAGGACCCACATACCAGG GTAGTCAAAAATATCCTACAAATCTTGAATAAAAGCTTGCAGCAATCATC ATCATTTCATTGTTATGATGAATGGTTATTAAAGTCTGAAGATACTAATA TGAAAGTGTTCTTGATTTTCATACGCCATTTGTTTATTAAGGCAGTTATA TAAATAACCACTTTTCTCTTCCTGAAATATTAATTAACTAAAATGTAAAC AGAATTTGGTTTGATCATGGAATAATTTTAGTTTAACCATTACAAAAAAC ATTTTATTATCATAGTTAATGTTATATTGTTTATTATTATTTTTTGAGAC AGAGTCTTACTCTCTTACCCAGGCTGGAGTGCAGTGGTGCAATCATAACT CACTGCAGCCTTGACC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0200 a0008c0013t0002g0200	1	354	0.0028	-915	c.753 others(15): Show c.753-409_797+461del		SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	13/33						chr13	TogoVar
ADARB2_chr10_1172313_1742525	1235686	CCCTCTGC others(907): Show CCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGC TTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGC GAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTT CCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTG GATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTG ACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCT GTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGT GGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGA GAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCC ACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGT GGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTG TCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCC GGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAG CCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATG ATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGC CCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTC CTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0049 a0002c0002t0044g0049	1	105	0.0095	-914	c.136 others(19): Show c.1362-2755_1362-1842del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar

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