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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT9_chr12_132191372_132334589	132231725	CGTGGAGT others(659): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGG AGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 NA18906.hp1 HG01167.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0029 a0001c0001 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0029t0003 a0001c0001t0001 a0001c0014t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0153 a0001c0029t0003g0107 a0001c0001t0001g0150 a0001c0014t0003g0153 a0001c0029t0003g0107	3	178	0.0169	-666	c.107 others(21): Show c.1077+15519_1077+16184del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
P2RX5_chr17_3668227_3701155	3686190	GAGAACAG others(659): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCA GGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01258.hp2 others(2): Show HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0129 a0002c0002t0001g0172 others(1): Show a0002c0002t0001g0013 a0002c0002t0001g0129 a0002c0002t0001g0172 a0002c0002t0001g0181	5	274	0.0182	-666	c.981 others(17): Show c.981+1156_981+1821del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686408	GGGGCCCC others(659): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	253	0.0040	-666	c.981 others(16): Show c.981+938_981+1603del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131917117	CAGGGACC others(659): Show CAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGT GGAATGACACAGCGTTTGTAGGGACCTCAGGTGGGTGGAATGACACAGTG TAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGC GGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCAGGTGGAATGACAC AGTGTAGGGACCTCAGGCGGGTGGGATGACACAGTGTAGGGACCTCACGC AGGTGGAATGACACAGTGTAGGGACCTCAGTCGGGTGGAATGACAGTGTT TGTAGGGACCTCAGTCGGGTGGAATGACAGTGTTTGTAGGGACCTCAGGC GGGTGGAATGACAGTGTTTGTAGGGACCTCACACGGATGGAATGACACAG TGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACC TCAGGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGTGGGTGGAATG ACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTC ATGTGGGTGGAATGACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAG TGTAGGGACCTCACGTGGGTGGAATGACACAGTATAGGGACCTCAGGCGG GTGGAATGACACAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02523.hp2 NA18959.hp1 others(3): Show HG02080.hp1 HG02523.hp2 NA18959.hp1 NA18969.hp1 NA18999.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0073 a0001c0001t0004g0079 others(3): Show a0001c0001t0004g0050 a0001c0001t0004g0073 a0001c0001t0004g0079 a0001c0001t0004g0111 a0001c0001t0004g0134 a0001c0001t0004g0200	6	387	0.0155	-666	c.100 others(19): Show c.100+15849_100+16514del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SNTG2_chr2_945849_1372613	1013980	GAGAGGGA others(659): Show GAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGA AGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAAGGATCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA AGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGACAGAGAGAAGGG TGGTCTGGAAAGTGATTTACAAGGGTAGAGAGAAGGGTGCTCTGGAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGAC AGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAAAGAAGGGTG GTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGA TTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGACAG AGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0163 a0009c0012t0001g0163	1	184	0.0054	-666	c.72+ others(17): Show c.72+62986_72+63651del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TBXA2R_chr19_3589507_3611875	3590552	GCCCAGCT others(659): Show GCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAA CTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCT GAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAG CTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGA TGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACC GAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAG AACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCT CTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCC AGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAA GCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGA CCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCT AGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAG CTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGG CCACCTCTGAGGCCAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0201 a0001c0002t0002g0201	1	426	0.0023	-666	c.44 others(11): Show c.4470_*5135del	TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding		3954		chr19	TogoVar
TNK2_chr3_195858364_195913551	195874668	TCCCCTCG others(659): Show TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGA TGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGC CCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGG CACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAG AAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCT CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTC CGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG01109.hp1 HG02630.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0059 a0001c0001 a0013c0059	a0001c0001t0001 a0013c0059t0001 a0001c0001t0001 a0013c0059t0001	a0001c0001t0001g0099 a0013c0059t0001g0029 a0001c0001t0001g0099 a0013c0059t0001g0029	2	370	0.0054	-666	c.125 others(19): Show c.1257-2864_1257-2199del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
YBEY_chr21_46281342_46302751	46293008	AACTCTAG others(659): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	281	0.0036	-666	c.339 others(17): Show c.339+1583_339+2248del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFP57_chr6_29667483_29686152	29682642	CAGGCGTG others(659): Show CAGGCGTGAGCCACCGCGCCCGGCTAGAAAAGATTTCTTTCTTTTTTCTT TTTTTTTTTTAATTATACTGTAAGTTTTAGGGTACATATGCACAACATGC CGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATA ACTCATCATTTAACATTAGATATATCTCCTAATGCTATCCCTCCCCACTC CCTAGAAAAGATTTCTTGTGGAGTTTTTAAAAAGTCCTTTGAAACAATTC TTTTCTTTTCCTTTTTTTTTTTTTTCGATACAGAGTTTTGCTCTTGTTGC CCAGGCTAGAGTGCAATGGCATGATCTCGGCTCACCGCAACCTCCGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTAC AGGCATGCACCACCATGCTTGGCTAATTTTGTATTTTTAGTAGAGATGGG GTTTCTCCATGTTGGTCAGGCTGTTCTCGAACTCCCAACCTCAGGTGATC CACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCAC GCCCAACTTAACAATTCTTACTTCAAACATGTAAGCATGACGTTCCTCTC CTTCATGCCTTCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTTCTTCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(23): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00741.hp2 HG01099.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04228.hp2 NA18954.hp2 NA18980.hp2 NA19002.hp2 NA19003.hp1 NA19063.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0034 others(6): Show a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0034 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074	26	434	0.0599	-666	c.-26 others(11): Show c.-2610_-1945del	ZFP57	ENSG00000204644.10	transcript	ENST00000376883.2	protein_coding		1491		chr6	TogoVar
CCDC77_chr12_396644_447642	420756	ACTTCTGT others(658): Show ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCC TCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCC ATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCA TGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02895.hp2 others(3): Show HG02145.hp1 HG02572.hp2 HG02895.hp2 HG03209.hp2 HG03579.hp2 NA20300.hp1	a0005 a0007 a0005 a0007	a0005c0005 a0007c0007 a0005c0005 a0007c0007	a0005c0005t0005 a0007c0007t0005 a0005c0005t0005 a0007c0007t0005	a0005c0005t0005g0332 a0005c0005t0005g0410 a0005c0005t0005g0418 others(3): Show a0005c0005t0005g0332 a0005c0005t0005g0410 a0005c0005t0005g0418 a0005c0005t0005g0419 a0005c0005t0005g0420 a0007c0007t0005g0382	6	413	0.0145	-665	c.413 others(17): Show c.413+2179_413+2843del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(658): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	292	0.0034	-665	c.13 others(11): Show c.1398_*2062del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(658): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	297	0.0034	-665	c.-37 others(11): Show c.-3714_-3050del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686384	CCTCAGAA others(658): Show CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGG CCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAAC ACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	360	0.0028	-665	c.981 others(16): Show c.981+963_981+1627del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RAB31_chr18_9703301_9867551	9815355	TAGATGCT others(658): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGGAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02080.hp1 HG03669.hp2 others(10): Show HG01952.hp1 HG02080.hp1 HG03669.hp2 HG03710.hp1 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA19001.hp1 NA19005.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0045	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0091 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0002g0051 a0001c0001t0002g0090 a0001c0001t0002g0169 a0001c0001t0003g0018 a0001c0001t0004g0219 a0001c0001t0005g0170 a0001c0001t0005g0199 a0001c0001t0045g0110	13	320	0.0406	-665	c.380 others(15): Show c.380+163_380+827del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC9A3_chr5_465456_529449	486886	GCACTGAC others(658): Show GCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCC ACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACA CCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTG ACACCCACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACC CACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACT GACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGA CACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACAC TGACACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCG CACTGACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTG ACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCA CTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACC GCACTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0169 a0001c0001t0030g0169	1	186	0.0054	-665	c.675 others(16): Show c.675+765_675+1429del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129856864	CTGCCCTT others(658): Show CTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCC CTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCC AGGGGAACGGGATGGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	82	0.0122	-665	c.79+ others(17): Show c.79+45732_79+46396del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TPO_chr2_1408463_1548673	1527995	CCCAATGT others(658): Show CCCAATGTGAGGAACCTCCTCAAATCCTCCCACTATGTGCAACCTCCTCA AATCTCCCCACTGTGTGCAACCCCCCCAGATCTCCCCCACTGTGAGCAAA AGCACAAATCCCCCACTGTGTGCAACATTCCTCAAATCCCCGCACTGTGT GCAACCCAACCAAATCTCACCCACTGTGAGCAAACCCCCACATCCCCCCA CTGTGTGCAACCTCCTCCAATCCCCCCACTGTGTGAAACCTCCCCAAATC CCCCCAATGTAGGCAACCCCCCAAATCTCCCCCACAGTGAGCAAAAACAC AAATTCCCCCACTGTGTGCAACCTCCACAAATCCTCCCAAGTCTGCAACC CCCCAAGTCCCCCCATTGTGAGCAACCACCCCAAATCCCGCCACTGTGTG CAACCTCCTCAAATCACCCGGTGTGCAACCTGCTCAAATCCCCCCACTGT GTGCAACCTCCTCAAATCTCTCAACTGTGTGCAACCTCCTCAAATCCCCC CTTCTGTGCAATTTCCCCAAATTCCAACTGTGTACAACCTCCTCAAATCC CTCCCACTCTTTGCAAACTCCCCAAATCGCCCCACTCTGTGCAACCGCCC CAAATCTACCCCAGTCTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGC AACCTCACCACATCCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0009 a0007c0013t0012 a0002c0002t0009 a0007c0013t0012	a0002c0002t0009g0062 a0007c0013t0012g0066 a0002c0002t0009g0062 a0007c0013t0012g0066	2	128	0.0156	-665	c.261 others(21): Show c.2618+11017_2618+11681del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNN2_chr19_1021608_1044065	1034392	CGGTGTCT others(657): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGT GTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGT GGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00099.hp1 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	375	0.0053	-664	c.390 others(17): Show c.390+1697_391-1074del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
ERBB4_chr2_211370717_212543802	212505416	GAGTGAGT others(657): Show GAGTGAGTATTAAACATCAAGTGAGGACACAATGAGGTCATATGTGTAAA AACTCTTTGTAAGCAGGAAAATGTTATAAAATTGGAAAGTATCATTGGGA AACACAGTCTTCCAAAGGGTCTCCTGTGCATCTACACATCTTGCTGGCTA TGCCAAAAAGGCGATGCCTCTTTATCTGAGCTATTTCTGAGCTGTGTTTG CAGTGAGAAACCTTGACGGATGATATAATGTCTCCTACAGGGACAAACAG CAGGCTTGTTTGATTGCTGTAAAAGTAGGGGATACCCCAAAGTCAGTGTT GCCTATAATACAATTAGGCAAGAAAAATTCATACAAGCATGCCAATGCTT ATCTTGCTTGCTGCAACATGAGTAATAAAAGTCCTTTGTTTCTGACTCAG TACTCTCATATCTTCTGACACCATCTACGACACAGTACAAGGCTACTTAG TAGGAGGTATATAGGGTAAAATAAAATCCCAGATCAAACATTTAGGCATA TCTCATTTTATTGTGCTTCACTTTATTGTGCCTTGCAGATACTGATTTTT ACAGATTTAGAGCTTGTGGCAACCCCGCATAGAACAAGTTTGTCAGCACC ATTTTTCCAACAACATATGTTAATTCTGCATCTCTGGACACATAGAATTT TGTGAATTTTGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG03239.hp2 others(1): Show HG01175.hp2 HG01192.hp1 HG03239.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0003t0001	a0001c0001t0002g0016 a0001c0001t0005g0015 a0001c0001t0008g0013 others(1): Show a0001c0001t0002g0016 a0001c0001t0005g0015 a0001c0001t0008g0013 a0002c0003t0001g0014	4	56	0.0714	-664	c.82+ others(17): Show c.82+32369_82+33032del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(657): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02630.hp1 NA18957.hp2 others(1): Show HG02523.hp1 HG02630.hp1 NA18957.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0100 a0002c0002t0002g0004 a0002c0002t0002g0016 others(1): Show a0002c0002t0001g0100 a0002c0002t0002g0004 a0002c0002t0002g0016 a0002c0002t0002g0108	4	290	0.0138	-664	c.13 others(11): Show c.1395_*2058del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1274		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(657): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02630.hp2 HG02129.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0002 a0001c0002t0001g0016	2	298	0.0067	-664	c.-37 others(11): Show c.-3717_-3054del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3632		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805598	CTCCCCCC others(657): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	317	0.0032	-664	c.-36 others(11): Show c.-3679_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3594		chr2	TogoVar
PSMC1_chr14_90251553_90280429	90252905	AATAAAAT others(657): Show AATAAAATGTTTTCCAGCCTCAACATACATGATATTAGGATAAAAGTATG CATGATAAATGGAATGGAAATATTCGCTTCAAAGGGAAAAGAGATGAAAG CAAATATTTTCAATGCTAGAAAAGAGCCTGCGTACATAAGTTTGAAATGG ATGAGATATCAAGCTATCATGATAGTTAGATTCCTTTGTGTATATACATT AAAATGTCAATACTTAAAACTTCCTGGCAAGTGGATCATTTGCAGCTATT TAAACTTATATGAAATTTAGATGCTAACCTAGAAATGTATCAAGAAATAC ATTTTGCAAATTACTTTCGAGAATGCATGAAGAAATGTGTTTGAAGATCA CTGTACCACTCTACGAAGAGATTGTAAATTTTGAATGGGATACGGGACCA TCTAATATATGCACAGAATGAGTGTGCCAATGGCAATTTGTATATTAACA AGAAATACTAATAAGGCCAGGCGCGGTGGCTCACACCTGTCATCCCAGCA CTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTGGAGACC AGCCTGGCCAGCATGGTGAAACCGCGTCTCTGCTAAAAATACAAAAATTA GCTGGGCATGGGGACGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATCGCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	2	388	0.0052	-664	c.-36 others(11): Show c.-3692_-3029del	PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding		3647		chr14	TogoVar
RNF213_chr17_80255852_80403794	80315105	GTGGTAAA others(657): Show GTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGAC GTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGGCGG TCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTG GTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGT GGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGG TGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACT GGAGGTGATGGTGGTCCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTG ATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGT AATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGG TGACAGTGGTGATGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02040.hp2 others(11): Show HG00438.hp1 HG00673.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02818.hp1 HG03139.hp2 HG03453.hp2 HG03490.hp2 NA18947.hp1 NA18975.hp1 NA19010.hp2	a0002 a0005 a0010 others(7): Show a0002 a0005 a0010 a0020 a0024 a0027 a0039 a0054 a0077 a0092	a0002c0002 a0002c0010 a0002c0121 others(9): Show a0002c0002 a0002c0010 a0002c0121 a0005c0007 a0010c0016 a0020c0026 a0024c0023 a0027c0038 a0039c0056 a0054c0081 a0077c0101 a0092c0122	a0002c0002t0002 a0002c0010t0002 a0002c0010t0008 others(10): Show a0002c0002t0002 a0002c0010t0002 a0002c0010t0008 a0002c0121t0002 a0005c0007t0002 a0010c0016t0020 a0020c0026t0006 a0024c0023t0003 a0027c0038t0003 a0039c0056t0002 a0054c0081t0001 a0077c0101t0002 a0092c0122t0002	a0002c0002t0002g0111 a0002c0010t0002g0068 a0002c0010t0008g0206 others(11): Show a0002c0002t0002g0111 a0002c0010t0002g0068 a0002c0010t0008g0206 a0002c0121t0002g0063 a0005c0007t0002g0201 a0010c0016t0020g0098 a0020c0026t0006g0207 a0024c0023t0003g0247 a0024c0023t0003g0248 a0027c0038t0003g0013 a0039c0056t0002g0152 a0054c0081t0001g0267 a0077c0101t0002g0061 a0092c0122t0002g0076	14	290	0.0483	-664	c.281 others(19): Show c.2811+1943_2812-1415del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	287607	TCTCTCCA others(657): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGA CAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCA CCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTCTC TCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCAC TCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTCCACC GTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02155.hp2 others(2): Show HG01978.hp1 HG01978.hp2 HG02155.hp2 HG02886.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0004t0004	a0001c0001t0001g0045 a0001c0001t0004g0039 a0001c0001t0004g0087 others(2): Show a0001c0001t0001g0045 a0001c0001t0004g0039 a0001c0001t0004g0087 a0001c0001t0010g0131 a0001c0004t0004g0014	5	131	0.0382	-664	c.352 others(17): Show c.352-6417_352-5754del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SNTG2_chr2_945849_1372613	1013149	GAGAGAAG others(657): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTC TGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTT ATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGA GGGATTTATATGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp2 others(26): Show HG00099.hp1 HG00140.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01516.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03654.hp2 HG04115.hp2 NA18969.hp2 NA19043.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0020	a0001c0001 a0001c0002 a0002c0003 others(9): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0007c0016 a0008c0031 a0011c0020 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0008t0002 a0004c0004t0001 a0004c0004t0002 a0005c0015t0001 a0007c0016t0001 a0008c0031t0001 a0011c0020t0001 a0020c0021t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(26): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0002t0001g0113 a0001c0002t0001g0120 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0131 a0002c0003t0001g0148 a0002c0005t0001g0100 a0003c0007t0001g0104 a0003c0008t0001g0102 a0003c0008t0001g0132 a0003c0008t0002g0072 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0005c0015t0001g0103 a0007c0016t0001g0005 a0008c0031t0001g0117 a0011c0020t0001g0110 a0011c0020t0001g0115 a0020c0021t0001g0119	29	186	0.1559	-664	c.72+ others(17): Show c.72+62087_72+62750del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1444704	GGCAGGCT others(657): Show GGCAGGCTCCTTCCTGTTTGTATGATCCAGTCATTGCTGCAGGAGGCACT GTGTTGGAAGGGAATGAGCAGGCTCCTTCTTGTTTGTATGATCCAGTCAT TGCTGCAGGAGGTACCCTGTTGGAAGGTAATGGGCAGGCTCCTTCTTGTT TGTATGATCCAGTCATTGCTGCAGGAGGCACCATGCTGGAAGGGAATGGG CAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCAT GTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATT GCTGCAGGAGGTACCATGTTGGAAGGGAATGGAGCTGGCTCCTTCTTGTT TGTATGATGCAGTCATTGCTGCAGGAGGTACTGTGTTGGAAGGGAATGGG GCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGCACCA TGTTGGAAGGAAATGGGGCAGGCTCCTTCCTGTTTGTATGATCCAGTCAC TGCTGCAGGAGTCACCATGTTGGAAGGGAATGGGCAGGCTCCTTCTTGTT TGTATGATCCAATCACTGCTGCAGGAGGCACCATGTTGGAAGGGAATGGG CAGGCTCCTTCCTGTTTGTATGATCCAGTCATTGCTGCAGGAGGCACTGT GTTGGAAGGGAATGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG03239.hp2 others(4): Show HG00741.hp1 HG02015.hp1 HG03239.hp2 HG04184.hp2 NA18962.hp1 NA19043.hp2 NA19058.hp1	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0019	a0003c0003 a0006c0026 a0007c0009 others(2): Show a0003c0003 a0006c0026 a0007c0009 a0007c0013 a0019c0017	a0003c0003t0005 a0006c0026t0003 a0007c0009t0003 others(4): Show a0003c0003t0005 a0006c0026t0003 a0007c0009t0003 a0007c0009t0006 a0007c0013t0007 a0007c0013t0012 a0019c0017t0002	a0003c0003t0005g0082 a0006c0026t0003g0052 a0007c0009t0003g0051 others(4): Show a0003c0003t0005g0082 a0006c0026t0003g0052 a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 a0007c0013t0012g0066 a0019c0017t0002g0023	7	128	0.0547	-664	c.482 others(17): Show c.482+8333_483-8314del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144624617	GGTTCACG others(656): Show GGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGC CCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGC GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02717.hp1 others(5): Show HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(5): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0002t0001g0226	8	237	0.0338	-663	c.-81 others(19): Show c.-81-19585_-81-18923del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144624682	TCACTGCA others(656): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGA GCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCAC GGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCA CGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTC ACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTT CACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGT TCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCG TTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCC GTTCACGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0074 a0001c0007t0003g0074	1	154	0.0065	-663	c.-81 others(19): Show c.-81-19650_-81-18988del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ASXL2_chr2_25728753_25883487	25863342	AAATTCTC others(656): Show AAATTCTCACAGCAGGAAGTAATTAACTTATCCGGACATGAGTTCTCTGG AACTTAAAATAAAAACAGGGGCCAGGCACAGTGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTAGATCATGAGGTCAGCAGATCAAG ACCATCCTGGCTAACACGGCGAAACCCTGTCTCTACTAAAATATACAAAA AATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGG CTAAGGCAGGAGAATGGCCTGAATCCAGAAGGCGGAGCTTGCAAAGAGCC GAGATCGCGCCACTGCACTCCAGCCTCGGGAACAGAGTAAGACTCTGTCT CAAAAACAAAAACAAAACAAAACAAAAAAACAGGTCGGGTGCCGTGGCTC ACACCTGTAATCTCAACACTTTGGGAGGCCAAAGCAAGCAGATCACTTGA GGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTA CTAAAAGTACAAAAATTAGCTGGGTATGGTGGCAGGTGACTGTAATCCCA GCTACTCGGAAGGCTGAGGCAGGACAACTGCTTGAACCCGGGAGGTGGGG GCTGCAGTAAGCTGAGATCACGCCACTGCACGCCAGCCTGGGTAACAGAG CGAGACTCCATCTC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	220	0.0045	-663	c.57+ others(17): Show c.57+14161_57+14823del	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
CAMK1D_chr10_12344547_12840545	12775457	AGGTGAGA others(656): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 NA18945.hp1 HG00735.hp1 HG01167.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0040 a0001c0001t0005g0189 a0001c0001t0009g0072 a0001c0001t0005g0040 a0001c0001t0005g0189 a0001c0001t0009g0072	3	214	0.0140	-663	c.565 others(17): Show c.565+5660_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	TTTACGGT others(656): Show TTTACGGTCCCCGCTGAGGCGTGACAGTGGGTCCCCGTGCGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACAGTCCCCGCTGAGGGGT GACGGCGCGTCCCCGTGCTTACGGTCCCTGCTGAGGCGTGACAGTGGGTC CCCGTGTGTACGGTCCCCGCTGAGGCGTGACAGCGCGTCCCCGTGTGTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCACCG AGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGTGTGATGG CGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGT GTGTACGGTCCCCGCCGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCG TGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGT CCCCGTGTGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGTGTA CGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACT GAGGCGTGACGGCGCTTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACG GCGCGTCCCCGTGG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	376	0.0027	-663	c.172 others(17): Show c.172-1670_172-1008del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
EIF4G3_chr1_20801479_21181897	21094102	AAAAAAAA others(656): Show AAAAAAAATTTTTTTTTTTTTTTAAAAAAAGCCAGGATTTCCTTAGGAAC ACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGA CAGTGTGGCGATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCA GCCACTCCATTACTGGGCATATACCCAAAGGATTATAAATCATGCTGCTA TAAAGACACATGCACACATACGTTTATTGCGGCACAATTCACAACAGCAA AGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATTAAGAAT ATGTGGCACATAATATACACCATGGAATACTATGCAGCCATAAAAAAGGA TGAGTTCATGTCCTTTGTAGGGACATGGATGAAGACGGAAACCATCATTC TCAGGAAACTATCGCAAAGACAGAAAACCAAACACCACATGTTCTCACTC ATAGGTGGGAACTGAACAATGAGAACACTTCGACACAGGAAAGGGAACAT CACACACCGGGGCCTGTCGTGAGGTGGGGGGAGGGGGGAGGGACAGCATT AGGAGATATACCTAATGTAAACGACGAGTTAATGGGTGCAGCACACCAAC ATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACC CTAGAACTTAAAGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	310	0.0032	-663	c.-27 others(19): Show c.-271-5552_-271-4890del	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(656): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01496.hp2 HG03139.hp2 HG01256.hp1 HG01496.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0001g0125 a0001c0001t0001g0199 a0001c0001t0001g0223	3	275	0.0109	-663	c.25 others(11): Show c.2501_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085567	GCCCCACT others(656): Show GCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC ACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCT CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATG ATCTCTTTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01952.hp1 others(10): Show HG00140.hp2 HG01168.hp1 HG01952.hp1 HG02071.hp1 HG02074.hp2 HG03017.hp2 HG03688.hp1 HG03710.hp2 NA18962.hp1 NA18997.hp1 NA19010.hp2 NA19011.hp2 NA19084.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0009 a0010 a0014 a0054 a0070 a0080	a0001c0002 a0001c0003 a0001c0014 others(9): Show a0001c0002 a0001c0003 a0001c0014 a0001c0039 a0002c0045 a0003c0001 a0009c0165 a0010c0207 a0014c0044 a0054c0136 a0070c0085 a0080c0203	a0001c0002t0001 a0001c0003t0001 a0001c0014t0001 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0014t0001 a0001c0039t0001 a0002c0045t0002 a0003c0001t0001 a0009c0165t0003 a0010c0207t0001 a0014c0044t0001 a0054c0136t0001 a0070c0085t0002 a0080c0203t0001	a0001c0002t0001g0323 a0001c0003t0001g0362 a0001c0014t0001g0330 others(10): Show a0001c0002t0001g0323 a0001c0003t0001g0362 a0001c0014t0001g0330 a0001c0039t0001g0363 a0002c0045t0002g0252 a0002c0045t0002g0274 a0003c0001t0001g0201 a0009c0165t0003g0207 a0010c0207t0001g0150 a0014c0044t0001g0236 a0054c0136t0001g0171 a0070c0085t0002g0034 a0080c0203t0001g0149	13	342	0.0380	-663	c.164 others(17): Show c.1644+195_1644+857del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKP3_chr11_389209_409908	400807	CCCCGCCC others(656): Show CCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCC GACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCC CGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCAC CCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCC CGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCG CTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20752.hp2 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0080 a0001c0001t0001g0083	2	212	0.0094	-663	c.173 others(17): Show c.1737+120_1737+782del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLE_chr12_132618762_132692342	132688195	CGGGGCGC others(656): Show CGGGGCGCGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGG TGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGG CCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCCAGGGGAGCG GGTCCTCATGGAGCGTGTGGAGACAGGGCCAAGGGAGCGAGTCTGCGGGG CGCGGGTGAAGACAGCGCCAGGGGAGCGGGTCTTGGGGGCGCGGGTAAAG ACAGGGCCAGGGGAGCGGGTCCTCATGGCGCGGGTGGAGACAGGGCCAAG GGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGGCCAAGGGAGCGGGTCT GCGGGGCGCGGGTGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCACGG GTAAAGACAGGGCCAAGGGAGCGGGTCTGCGTGGTGCGGGTGAAGACAGG GCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAGGGGAGC GGGTCTTGGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGG GCACGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGGTGAA GACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAG GGGAGCGGGTCTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0026 a0001c0035 a0006c0009 others(1): Show a0001c0026 a0001c0035 a0006c0009 a0008c0011	a0001c0026t0002 a0001c0035t0011 a0006c0009t0002 others(1): Show a0001c0026t0002 a0001c0035t0011 a0006c0009t0002 a0008c0011t0002	a0001c0026t0002g0028 a0001c0035t0011g0160 a0006c0009t0002g0020 others(6): Show a0001c0026t0002g0028 a0001c0035t0011g0160 a0006c0009t0002g0020 a0006c0009t0002g0021 a0006c0009t0002g0022 a0006c0009t0002g0023 a0008c0011t0002g0148 a0008c0011t0002g0151 a0008c0011t0002g0152	9	290	0.0310	-663	c.-15 others(10): Show c.-1543_-881del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		854		chr12	TogoVar
PXMP2_chr12_132682587_132709985	132688195	CGGGGCGC others(656): Show CGGGGCGCGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGG TGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGG CCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCCAGGGGAGCG GGTCCTCATGGAGCGTGTGGAGACAGGGCCAAGGGAGCGAGTCTGCGGGG CGCGGGTGAAGACAGCGCCAGGGGAGCGGGTCTTGGGGGCGCGGGTAAAG ACAGGGCCAGGGGAGCGGGTCCTCATGGCGCGGGTGGAGACAGGGCCAAG GGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGGCCAAGGGAGCGGGTCT GCGGGGCGCGGGTGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCACGG GTAAAGACAGGGCCAAGGGAGCGGGTCTGCGTGGTGCGGGTGAAGACAGG GCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAGGGGAGC GGGTCTTGGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGG GCACGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGGTGAA GACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAG GGGAGCGGGTCTTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(7): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005	a0001c0004t0002g0044 a0001c0004t0004g0025 a0001c0004t0004g0026 others(3): Show a0001c0004t0002g0044 a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0005g0012	10	348	0.0287	-663	c.122 others(16): Show c.122+426_122+1088del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIGIRR_chr11_400716_419999	400807	CCCCGCCC others(656): Show CCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCC GACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCC CGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCAC CCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCC CGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCG CTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20752.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0186 a0001c0001t0001g0111 a0001c0001t0001g0186	2	239	0.0084	-663	c.44 others(11): Show c.4426_*5088del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4908		chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1888039	GGGTTGTT others(655): Show GGGTTGTTAGGAGACAGTGAGTGGGATGAGGGTTTATGAGGAGACACTAG GTAGGGTGAATGTTTTGAGGAGACACTTAGTGGGGTGAGGGTTTGCGAGG AGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGG TTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTG TGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGG GGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGACTGTGAG GAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGGTGATAGTTT TGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGTGTGGAGGGC TGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTGG GGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCTGTGAGGAGA CGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGTGTGAGGGGTC TGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAACACAGAGTGTG GTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAGGGTTTGTGAGGAGACA CTGAATAGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19002.hp1 HG00673.hp2 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0050 a0001c0004 a0001c0050	a0001c0004t0002 a0001c0050t0005 a0001c0004t0002 a0001c0050t0005	a0001c0004t0002g0228 a0001c0050t0005g0170 a0001c0004t0002g0228 a0001c0050t0005g0170	2	337	0.0059	-662	c.118 others(19): Show c.1182+2337_1182+2998del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
BRSK2_chr11_1384934_1467689	1429973	CGGGGTCT others(655): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0126 a0002c0002t0020g0126	1	252	0.0040	-662	c.92- others(15): Show c.92-6064_92-5403del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHPT1_chr12_101692640_101734074	101704514	GCCTCAGC others(655): Show GCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGTGCACCACCATGCCTG GCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAGGC TGGGCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCAGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGTTTTTCAAAA TACATTAAATTTTTTCAAAATATATTAAAATAAACATAAACATTCAATTG AAAAGTTTACCTACAGATCACCTAAAATTATCTGATGGAGTATCAGTAAT AACAGTAACAGTAACAAATACTGAGCTCCTTCCATATGCCCAGCACTTTT ATAAACATTTTACATGTGATAAGTCATTTAATTTTCACAATGAGAGAGGA GCAATGATTATTACCATTTTCAAATGGAGAGACTAAGGCACTGTAAAGTG ATTCATCCAACTCATTTAGCCAGTAAGTAGCAGAGCAAATGTGGGTGCAA GTAGAGTCTAGAGTCTATGCCCCTAACCACTCTGCAAGAAAAACCTGGGG CATGTATTCTTCCCATTGCTTTTTTGTTTTGTTTGTTTGTTTGTTTGTTT TTGAGATAGGGTCTCACTTGGCTCACTGCAACCTTGGCCTACTGTCCTCA AGTGATCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01243.hp1 others(32): Show HG01081.hp1 HG01167.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 a0005c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0031 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0003t0001g0105 a0001c0012t0001g0100 a0005c0008t0001g0235 a0005c0008t0001g0236	35	398	0.0879	-662	c.273 others(17): Show c.273+7058_273+7719del	CHPT1	ENSG00000111666.11	transcript	ENST00000229266.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHPT1_chr12_101692640_101734074	101705224	TGGCTAAT others(655): Show TGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAG GCTGGGCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCAGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGTTTTTCAA AATACATTAAATTTTTTCAAAATATATTAAAATAAACATAAACATTCAAT TGAAAAGTTTACCTACAGATCACCTAAAATTATCTGATGGAGTATCAGTA ATAACAGTAACAGTAACAAATACTGAGCTCCTTCCATATGCCCAGCACTT TTATAAACATTTTACATGTGATAAGTCATTTAATTTTCACAATGAGAGAG GAGCAATGATTATTACCATTTTCAAATGGAGAGACTAAGGCACTGTAAAG TGATTCATCCAACTCATTTAGCCAGTAAGTAGCAGAGCAAATGTGGGTGC AAGTAGAGTCTAGAGTCTATGCCCCTAACCACTCTGCAAGAAAAACCTGG GGCATGTATTCTTCCCATTGCTTTTTTGTTTTGTTTGTTTGTTTGTTTGT TTTTGAGATAGGGTCTCACTTGGCTCACTGCAACCTTGGCCTACTGTCCT CAAGTGATCCTCCCCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATG CACCCCCACGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(98): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0003c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0037 others(64): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0207 a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0134 a0001c0001t0003g0024 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0007g0115 a0001c0001t0007g0118 a0001c0003t0002g0129 a0001c0004t0001g0005 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0022 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0223 a0001c0005t0002g0014 a0001c0005t0002g0124 a0001c0005t0002g0125 a0001c0005t0002g0126 a0001c0005t0002g0127 a0001c0005t0002g0128 a0001c0005t0002g0133 a0003c0006t0001g0005 a0003c0006t0001g0208 a0003c0006t0001g0209 a0003c0006t0001g0210 a0003c0006t0001g0215 a0003c0006t0001g0226	101	400	0.2525	-662	c.273 others(17): Show c.273+7101_273+7762del	CHPT1	ENSG00000111666.11	transcript	ENST00000229266.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DGKE_chr17_56829151_56874567	56873905	TCCGCCAG others(655): Show TCCGCCAGTTGGGGGTGACATGAATGCCATAGCTATTCTTTGTCATATCT GCATTTGCACATTGCCACGTTGAATGGTTATGCTTTAAAATTGGAGAGTT GGAACCAAAAACAGTTCACTGTACTTGATAAAGTAACTCATGTATGTCAT CAACAACTAAGGATGACTGTTTCCTCTTCAAATATGCCCCGAGTATTTAT CCAATAAACAAAACTAGTTATTTTCTATAGTGGTACTATAGAGTCATTCC ATTTGCTTCTAGAGTTTCCAGTGAACCAATGCCTAATTTCAGTGAGCTCT CTATGATATAGTTAAGGGTATCATGGTCATGTTCTGGTATTATATCTGCA TCATTATATAGAGTAGTTCAGTCTCCATAATCTATATCAAACCAAAGACT TTGATTACAGAGGGAGTCTGGACCACTGCTGAGATTAGTCCCAGTTTTTC TTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC AATCTGTTGCCCAGGCTGGAGTTAAGTGGAACAAACATGGCTCACTGTAG GCTCTCCCTCCAGGGCTTAAGTGATCCTCCCACTGCAGCCTCCCAAGTAG CTGGGACTACAGGCGTGCATCACCATGCCTGGCTAATTTTTGTATTTTTG CTTAGTAGAGACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	322	0.0031	-662	c.11 others(13): Show c.11115_*11776del	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		4339		chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806988	ACCCTCCC others(655): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCA CGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA20129.hp1 HG00673.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0002g0160 a0001c0001t0001g0193 a0001c0001t0002g0160	2	227	0.0088	-662	c.28 others(11): Show c.2823_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2702		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806988	ACCCTCCC others(655): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCA CGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA20129.hp1 HG00673.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0011 a0001c0001t0001g0001 a0001c0001t0003g0011	2	230	0.0087	-662	c.-22 others(11): Show c.-2289_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(655): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCT CGGGGGCCAACCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0031 a0001c0008t0001g0031	1	220	0.0045	-662	c.136 others(19): Show c.1360+6186_1360+6847del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057634	CCTACACA others(655): Show CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCC TACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGA CCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGG CTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTAC ACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCT CAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	115	0.0087	-662	c.136 others(19): Show c.1360+6155_1360+6816del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133291461	GTCCCTCC others(655): Show GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG TCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTG TCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTG TCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCC CCCATGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01074.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	282	0.0071	-662	c.121 others(18): Show c.1214+376_1214+1037del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238044	CCTCTGCC others(654): Show CCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCC TCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0077 a0001c0001t0050g0077	1	105	0.0095	-661	c.136 others(19): Show c.1361+3426_1361+4086del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar

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