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
CLDN6_chr16_3009712_3023183	3011557	GTGCTGGG others(101): Show GTGCTGGGATATCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAATCGCCCACCTT GGCCTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-108	c.36 others(11): Show c.3694_*3801del		CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding					3154		chr16	TogoVar
CLDN9_chr16_3007923_3019505	3011557	GTGCTGGG others(101): Show GTGCTGGGATATCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAATCGCCCACCTT GGCCTCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0000 a0003c0006t0006g0000	1	426	0.0023	-108	c.-18 others(11): Show c.-1805_-1698del		CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding					1365		chr16	TogoVar
COL18A1_chr21_45400165_45518720	45437516	ACACACAC others(101): Show ACACACACTCAGACACACAGGCACTCTCCTGCACACACACACACACAGAC ACAGGCACTCTCCTGTACACACACACACTCACACACTCAGACACACAGGC ACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	289	0.0035	-108	c.107 others(19): Show c.107-30718_107-30611del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988183	CGTCGGGG others(101): Show CGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACG GCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03688.hp1 HG02559.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0003 a0001c0022t0007 a0001c0003t0003 a0001c0022t0007	a0001c0003t0003g0015 a0001c0022t0007g0046 a0001c0003t0003g0015 a0001c0022t0007g0046	2	116	0.0172	-108	c.804 others(15): Show c.804+531_804+638del		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CPLX1_chr4_779957_831129	826381	GGGGGCGG others(101): Show GGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGTGGACCCGGGGGCGG GGGCGGGGGGCGGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGG GGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0145 a0001c0001t0010g0010 a0001c0001t0010g0145	2	414	0.0048	-108	c.-52 others(9): Show c.-523_-416del		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					253		chr4	TogoVar
CPXM2_chr10_123740639_123896807	123857542	CGATGGAA others(101): Show CGATGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGAGATGGAAGGCGGC GTGGAGATGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGAGATGGAAGG CGGCGTGGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp2 HG02155.hp2 others(5): Show HG01175.hp2 HG02027.hp2 HG02155.hp2 HG02738.hp1 HG03669.hp2 HG04204.hp1 NA19000.hp1 NA19085.hp2	a0001 a0013 a0001 a0013	a0001c0011 a0001c0013 a0001c0031 others(2): Show a0001c0011 a0001c0013 a0001c0031 a0001c0032 a0013c0033	a0001c0011t0001 a0001c0011t0002 a0001c0013t0001 others(4): Show a0001c0011t0001 a0001c0011t0002 a0001c0013t0001 a0001c0013t0018 a0001c0031t0006 a0001c0032t0001 a0013c0033t0001	a0001c0011t0001g0210 a0001c0011t0002g0209 a0001c0011t0002g0231 others(5): Show a0001c0011t0001g0210 a0001c0011t0002g0209 a0001c0011t0002g0231 a0001c0013t0001g0205 a0001c0013t0018g0213 a0001c0031t0006g0193 a0001c0032t0001g0225 a0013c0033t0001g0179	8	86	0.0930	-108	c.513 others(17): Show c.513+4964_513+5071del		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13						chr10	TogoVar
CRLF2_chrX_1185490_1217649	1186479	AATGGCTC others(101): Show AATGGCTCGAACCCGGGAGGCGGAGCTTGCAGTGACCCGAGATCGTGCCA CTGCACTCCAGCCTGGGCGACAAGAGCAAAAATGCACCTAAAAAAAAAGA CGGATGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0105 a0002c0004t0001g0105	1	165	0.0061	-108	c.43 others(11): Show c.4310_*4417del		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding					4010		chrX	TogoVar
CSMD1_chr8_2930361_4999914	4486109	GTATATAT others(101): Show GTATATATACATACATATATATATATATACATACATATATATATATATAC ATACATATATATATATACATACATATATATATATATATATACATACATAT ATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG03017.hp1 others(3): Show HG01261.hp1 HG01261.hp2 HG03017.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0039	a0001c0002 a0001c0085 a0001c0108 others(3): Show a0001c0002 a0001c0085 a0001c0108 a0002c0035 a0015c0063 a0039c0010	a0001c0002t0061 a0001c0085t0020 a0001c0108t0054 others(3): Show a0001c0002t0061 a0001c0085t0020 a0001c0108t0054 a0002c0035t0047 a0015c0063t0010 a0039c0010t0068	a0001c0002t0061g0069 a0001c0085t0020g0060 a0001c0108t0054g0074 others(3): Show a0001c0002t0061g0069 a0001c0085t0020g0060 a0001c0108t0054g0074 a0002c0035t0047g0076 a0015c0063t0010g0045 a0039c0010t0068g0084	6	125	0.0480	-108	c.303 others(19): Show c.303-66152_303-66045del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967943	GACCACCC others(101): Show GACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGC CCCCGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAG GCTGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	316	0.0032	-108	c.-26 others(19): Show c.-265-1523_-265-1416del		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
CTIF_chr18_48534031_48868217	48730480	CGGTGTGA others(101): Show CGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCC CCTGTGGTGTGAGGGGCTTCTGCTGTGTGAGGGGCTTCTGCGGTGTGAGG GGCCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG01884.hp1 others(22): Show HG00621.hp1 HG01261.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 NA18747.hp1 NA18747.hp2 NA19011.hp2 NA19068.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0026 a0001c0001t0036 a0001c0001t0049 a0001c0002t0025 a0001c0002t0034 a0001c0003t0001 a0001c0003t0007 a0002c0004t0005 a0002c0004t0010	a0001c0001t0001g0074 a0001c0001t0001g0120 a0001c0001t0002g0029 others(22): Show a0001c0001t0001g0074 a0001c0001t0001g0120 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0118 a0001c0001t0004g0008 a0001c0001t0005g0006 a0001c0001t0006g0021 a0001c0001t0006g0063 a0001c0001t0008g0007 a0001c0001t0020g0020 a0001c0001t0020g0057 a0001c0001t0026g0125 a0001c0001t0036g0069 a0001c0001t0049g0124 a0001c0002t0025g0130 a0001c0002t0034g0015 a0001c0003t0001g0035 a0001c0003t0001g0044 a0001c0003t0001g0080 a0001c0003t0001g0116 a0001c0003t0007g0010 a0001c0003t0007g0052 a0002c0004t0005g0054 a0002c0004t0010g0085	25	137	0.1825	-108	c.584 others(19): Show c.584+18804_584+18911del		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CYTH1_chr17_78669048_78787273	78760449	ATATATAC others(101): Show ATATATACATACATATATATATGTATATATATGTATGTATATATATATAC ATATATATGTATATATATGTATATATATATATACATACATATATATGTAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0363 a0001c0001t0003g0366 a0001c0001t0003g0237 a0001c0001t0003g0363 a0001c0001t0003g0366	3	376	0.0080	-108	c.22+ others(17): Show c.22+21645_22+21752del		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13						chr17	TogoVar
DAGLB_chr7_6404129_6452954	6421307	TCAGGCAG others(101): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02698.hp1 HG03942.hp2 HG00099.hp1 HG02698.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0277 a0001c0001t0003g0339 a0001c0001t0003g0225 a0001c0001t0003g0277 a0001c0001t0003g0339	3	119	0.0252	-108	c.121 others(17): Show c.1218+312_1218+419del		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DDX51_chr12_132131594_132149319	132135354	CCCGAGTG others(101): Show CCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	332	0.0030	-108	c.38 others(11): Show c.3810_*3917del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1239		chr12	TogoVar
DGKB_chr7_14140049_14907751	14211446	TATTTACT others(101): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	130	0.0077	-108	c.212 others(21): Show c.2123-33403_2123-33296del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211468	TTTTACTC others(101): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	105	0.0095	-108	c.212 others(21): Show c.2123-33425_2123-33318del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DHRSX_chrX_2214506_2505976	2228148	GAGGGAGG others(101): Show GAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGAA GGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGG GAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	45	0.0222	-108	c.805 others(17): Show c.805-7027_805-6920del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DIP2C_chr10_269201_694668	418070	ACTGCACC others(101): Show ACTGCACCTGTCAGGCCTCAGATAGGCATCCCCGTCCACCTGTCGGAGCT CGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTC CCTGTCCAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	61	0.0164	-108	c.739 others(15): Show c.739+887_739+994del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36						chr10	TogoVar
DIP2C_chr10_269201_694668	532632	TGAGAGAG others(101): Show TGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATG GGTGTGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTA TGGGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	86	0.0116	-108	c.86- others(17): Show c.86-46210_86-46103del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLC1_chr8_13078361_13519851	13453394	ATATATAT others(101): Show ATATATATGTGTATATATATATATATATATGTGTATATATATATGTATAT ATATACATATATATATGTATATATATACATATATATGTATATATATACAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01175.hp2 others(4): Show HG00639.hp2 HG01081.hp2 HG01175.hp2 HG02132.hp2 HG03654.hp2 NA18522.hp1 NA18970.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0042 a0008c0010	a0001c0001t0001 a0001c0001t0053 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0053 a0002c0002t0002 a0002c0006t0003 a0002c0042t0020 a0008c0010t0013	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0053g0212 others(4): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0053g0212 a0002c0002t0002g0064 a0002c0006t0003g0114 a0002c0042t0020g0203 a0008c0010t0013g0194	7	210	0.0333	-108	c.102 others(21): Show c.1023+45547_1023+45654del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLGAP2_chr8_732628_1713476	983341	GAGATGTT others(101): Show GAGATGTTCTTGTGTCCCTTAGAATCCACGTGTTGGTGGAAGGTACAGGT CGTCGAGATGTTCTTCTGTCCCTTAGAATCCACGTGTTGGTGGAAGGTAC AGGTCGTCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02074.hp1 NA20300.hp2 HG01071.hp2 HG02074.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0006 a0002c0001t0011 a0002c0001t0020 a0001c0002t0006 a0002c0001t0011 a0002c0001t0020	a0001c0002t0006g0011 a0002c0001t0011g0002 a0002c0001t0020g0024 a0001c0002t0006g0011 a0002c0001t0011g0002 a0002c0001t0020g0024	3	40	0.0750	-108	c.73+ others(17): Show c.73+75386_73+75493del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	990304	GGCCCAGA others(101): Show GGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC TCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCCCCTT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	38	0.0263	-108	c.73+ others(17): Show c.73+82388_73+82495del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	990417	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	38	0.0263	-108	c.73+ others(17): Show c.73+82505_73+82612del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991169	GCCCGGAC others(101): Show GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCC CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0028 a0004c0008t0016g0028	1	40	0.0250	-108	c.73+ others(17): Show c.73+83252_73+83359del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991713	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	1	39	0.0256	-108	c.73+ others(17): Show c.73+83792_73+83899del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991758	TCCTTGCC others(101): Show TCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0002 a0002c0001t0011g0002	1	34	0.0294	-108	c.73+ others(17): Show c.73+83801_73+83908del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991875	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	36	0.0278	-108	c.73+ others(17): Show c.73+83954_73+84061del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991920	TCCTTGCC others(101): Show TCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	34	0.0294	-108	c.73+ others(17): Show c.73+84062_73+84169del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992244	TCCTTGCC others(101): Show TCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	31	0.0323	-108	c.73+ others(130): Show c.73+84278_73+84386delTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCAinsC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	992244	TCCTTGCC others(101): Show TCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	31	0.0323	-108	c.73+ others(17): Show c.73+84337_73+84444del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992519	GCCCAGAC others(101): Show GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	-108	c.73+ others(17): Show c.73+84557_73+84664del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992739	GGACCCCC others(101): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCA	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0030 a0003c0005t0002g0030	1	23	0.0435	-108	c.73+ others(17): Show c.73+84773_73+84880del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	993225	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	32	0.0313	-108	c.73+ others(17): Show c.73+85363_73+85470del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039521	TTCAGCTC others(101): Show TTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTTGGTGTG CGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGG TGTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02922.hp2 HG02976.hp2 others(3): Show HG01496.hp1 HG02922.hp2 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0011 others(3): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 others(3): Show a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 a0002c0001t0019 a0002c0004t0003 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0001 others(3): Show a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0001 a0002c0001t0019g0031 a0002c0004t0003g0009 a0004c0008t0016g0028	6	38	0.1579	-108	c.73+ others(19): Show c.73+131580_73+131687del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039553	CGTGGTCA others(101): Show CGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGG TGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGC TCGGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-108	c.73+ others(19): Show c.73+131598_73+131705del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1240969	CCGTGTCT others(101): Show CCGTGTCTAGTTCTCTCACATGGTGCTGTGTCTAGTTCTCTCTCACACAT AGCGTCATGTATAGTTCTGTCTCACACAGAGCATCGTGTCTGGTTCTCTC ACATGGTGA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0028 a0004c0008t0016g0028	1	40	0.0250	-108	c.74- others(17): Show c.74-17859_74-17752del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375086	ACCTCAGA others(101): Show ACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTC CACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAACGACCCC TCTCCACGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0008 a0002c0001 a0004c0008	a0002c0001t0002 a0004c0008t0016 a0002c0001t0002 a0004c0008t0016	a0002c0001t0002g0013 a0004c0008t0016g0028 a0002c0001t0002g0013 a0004c0008t0016g0028	2	32	0.0625	-108	c.106 others(21): Show c.106+116216_106+116323del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375885	ACCTCTCC others(101): Show ACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-108	c.106 others(21): Show c.106+117057_106+117164del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF3_chr19_55153665_55171613	55155437	CCAGGGTC others(101): Show CCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGG AGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG CCTGGACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01071.hp2 others(7): Show HG00323.hp1 HG01070.hp2 HG01071.hp2 HG01515.hp2 HG01975.hp2 HG03239.hp2 HG03654.hp1 HG03927.hp2 HG04199.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	10	396	0.0253	-108	c.35 others(11): Show c.3517_*3624del		DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding					3227		chr19	TogoVar
DNAAF5_chr7_721699_791475	753776	GTCTCTCT others(101): Show GTCTCTCTCATCATATGGCGATGGCTTCGCAGGCGTGTCTCTCTCATCAT ATGGGGATGGCTTCGCAGGCGTGTCTCTCTGATCATATGGCGACGGCTTC GCAGGCGTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	374	0.0027	-108	c.102 others(17): Show c.1025-775_1025-668del		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78478590	CTACCACT others(101): Show CTACCACTGTCACCACCACCGTCATCACCCCCATTATTATAATCATTATC ACCATTACCATCACCACCATCACTACCATCACTACCACCATCATCACAAT TATTACCAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0015 a0015	a0015c0163 a0015c0163	a0015c0163t0001 a0015c0163t0001	a0015c0163t0001g0158 a0015c0163t0001g0158	1	250	0.0040	-108	c.799 others(17): Show c.7992+327_7992+434del		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80						chr17	TogoVar
DOCK8_chr9_209865_470255	400235	TCACCACC others(101): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCC TTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCAC CTCCTCCAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0093 a0002c0010t0001g0093	1	208	0.0048	-108	c.323 others(18): Show c.3234+990_3234+1097del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403880	CTCTCTCT others(101): Show CTCTCTCTCTCTCTATATATATATATATATATATATACATATATATATAT GTGTATATATATATGTGTATATATATATATGTATATATATATATATGTGT ATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0003 a0002c0078t0003	a0002c0078t0003g0018 a0002c0078t0003g0018	1	251	0.0040	-108	c.323 others(18): Show c.3235-1036_3235-929del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP10_chr2_114437641_115850780	115438781	ATGTGGAA others(101): Show ATGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGG CTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTATGATGGTCATG GAAGCACAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp2 HG03239.hp2 others(1): Show HG01192.hp2 HG02735.hp2 HG03239.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0014 a0002c0001t0001g0033 a0002c0001t0002g0050 others(1): Show a0001c0002t0001g0014 a0002c0001t0001g0033 a0002c0001t0002g0050 a0002c0001t0002g0053	4	56	0.0714	-108	c.272 others(19): Show c.272-60640_272-60533del		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115439134	AAGCACAG others(101): Show AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGA ATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG03579.hp2 others(2): Show HG02818.hp1 HG03516.hp2 HG03579.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0005	a0001c0002t0013 a0002c0001t0002 a0003c0003t0003 others(2): Show a0001c0002t0013 a0002c0001t0002 a0003c0003t0003 a0004c0005t0003 a0004c0005t0012	a0001c0002t0013g0024 a0002c0001t0002g0032 a0003c0003t0003g0049 others(2): Show a0001c0002t0013g0024 a0002c0001t0002g0032 a0003c0003t0003g0049 a0004c0005t0003g0030 a0004c0005t0012g0031	5	31	0.1613	-108	c.272 others(19): Show c.272-60308_272-60201del		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DSPP_chr4_87603529_87621873	87615918	GATAGCAG others(101): Show GATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAG CAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTG ACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0018 a0019 a0023 a0025 a0026 a0027 a0032 a0033 a0035 a0036 a0037 a0038 a0039 a0042	a0001c0002 a0001c0007 a0001c0055 others(39): Show a0001c0002 a0001c0007 a0001c0055 a0002c0001 a0003c0003 a0003c0038 a0004c0005 a0004c0009 a0004c0012 a0004c0020 a0006c0006 a0006c0010 a0006c0059 a0006c0063 a0007c0008 a0008c0014 a0008c0031 a0009c0011 a0010c0019 a0010c0023 a0011c0016 a0011c0034 a0013c0021 a0013c0032 a0015c0017 a0016c0018 a0017c0030 a0017c0061 a0018c0022 a0019c0025 a0023c0028 a0025c0047 a0026c0043 a0027c0035 a0032c0033 a0033c0057 a0035c0062 a0036c0048 a0037c0036 a0038c0039 a0039c0037 a0042c0054	a0001c0002t0001 a0001c0007t0001 a0001c0055t0001 others(39): Show a0001c0002t0001 a0001c0007t0001 a0001c0055t0001 a0002c0001t0001 a0003c0003t0001 a0003c0038t0001 a0004c0005t0001 a0004c0009t0001 a0004c0012t0001 a0004c0020t0001 a0006c0006t0001 a0006c0010t0001 a0006c0059t0001 a0006c0063t0001 a0007c0008t0001 a0008c0014t0001 a0008c0031t0001 a0009c0011t0001 a0010c0019t0001 a0010c0023t0001 a0011c0016t0001 a0011c0034t0001 a0013c0021t0001 a0013c0032t0001 a0015c0017t0001 a0016c0018t0001 a0017c0030t0001 a0017c0061t0001 a0018c0022t0001 a0019c0025t0001 a0023c0028t0001 a0025c0047t0001 a0026c0043t0001 a0027c0035t0001 a0032c0033t0001 a0033c0057t0001 a0035c0062t0001 a0036c0048t0001 a0037c0036t0001 a0038c0039t0001 a0039c0037t0001 a0042c0054t0003	a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0040 others(66): Show a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0007t0001g0002 a0001c0055t0001g0002 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0007 a0002c0001t0001g0020 a0003c0003t0001g0003 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0038t0001g0003 a0004c0005t0001g0004 a0004c0005t0001g0013 a0004c0005t0001g0021 a0004c0005t0001g0035 a0004c0005t0001g0037 a0004c0009t0001g0004 a0004c0012t0001g0004 a0004c0012t0001g0030 a0004c0020t0001g0004 a0006c0006t0001g0005 a0006c0006t0001g0006 a0006c0006t0001g0034 a0006c0010t0001g0005 a0006c0010t0001g0016 a0006c0010t0001g0028 a0006c0059t0001g0033 a0006c0063t0001g0016 a0007c0008t0001g0002 a0008c0014t0001g0010 a0008c0014t0001g0023 a0008c0031t0001g0005 a0009c0011t0001g0002 a0010c0019t0001g0004 a0010c0023t0001g0004 a0011c0016t0001g0008 a0011c0034t0001g0008 a0013c0021t0001g0005 a0013c0021t0001g0006 a0013c0021t0001g0010 a0013c0032t0001g0005 a0015c0017t0001g0003 a0016c0018t0001g0001 a0017c0030t0001g0015 a0017c0061t0001g0005 a0018c0022t0001g0001 a0019c0025t0001g0001 a0019c0025t0001g0007 a0023c0028t0001g0001 a0025c0047t0001g0001 a0026c0043t0001g0001 a0027c0035t0001g0003 a0032c0033t0001g0008 a0033c0057t0001g0002 a0035c0062t0001g0039 a0036c0048t0001g0001 a0037c0036t0001g0003 a0038c0039t0001g0003 a0039c0037t0001g0003 a0042c0054t0003g0006	371	448	0.8281	-108	c.327 others(9): Show c.3273_3380del	p.Asn others(15): Show p.Asn1092_Ser1127del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3393/4331	3273/3906	1091/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1A1_chr6_73510750_73526032	73522538	GGTTTCTG others(101): Show GGTTTCTGTATCTTTGTAGTGTAGTTTTTCTAGTCCTTTCAGTTTTCACA GTCCACTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAG TTCTACTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01099.hp1 others(48): Show HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01257.hp2 HG01261.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02129.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG03491.hp2 HG03492.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19079.hp2 NA19083.hp2 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025	a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0016 others(7): Show a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0017g0021 a0001c0001t0022g0044 a0001c0001t0025g0045	51	422	0.1209	-108	c.-16 others(11): Show c.-1677_-1570del		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding					1507		chr6	TogoVar
EFNA5_chr5_107371894_107675937	107405873	ATATATTT others(101): Show ATATATTTGTATACATATTCTATGTATTTATATACATAGAATGTATACAA ATACATATATTTGTATACATATTCTATGTATTTATATACATAGAATGTAT AAAAATACC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 NA21309.hp2 HG01106.hp1 HG01243.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0044 a0001c0001t0006 a0001c0001t0031 a0001c0001t0044	a0001c0001t0006g0127 a0001c0001t0031g0003 a0001c0001t0044g0037 a0001c0001t0006g0127 a0001c0001t0031g0003 a0001c0001t0044g0037	3	190	0.0158	-108	c.419 others(19): Show c.419-18210_419-18103del		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107405927	ATATATTT others(101): Show ATATATTTGTATACATATTCTATGTATTTATATACATAGAATGTATAAAA ATACCTATATTTGTATACATATTCTATGTATTTATATACATAGAATGTAT AAAAATACC	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0034 a0001c0001t0060g0034	1	114	0.0088	-108	c.419 others(19): Show c.419-18263_419-18156del		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107405974	AAAATACC others(101): Show AAAATACCTATATTTGTATACATATTCTATGTATTTATATACATAGAATG TATAAAAATACCTATATTTGTATACATATTCTATGTATTTATATACATAG AATGTATAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03540.hp2 NA18957.hp2 others(1): Show HG01496.hp1 HG03540.hp2 NA18957.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0028 a0001c0001t0061 others(1): Show a0001c0001t0010 a0001c0001t0028 a0001c0001t0061 a0001c0001t0086	a0001c0001t0010g0107 a0001c0001t0028g0159 a0001c0001t0061g0170 others(1): Show a0001c0001t0010g0107 a0001c0001t0028g0159 a0001c0001t0061g0170 a0001c0001t0086g0128	4	188	0.0213	-108	c.419 others(19): Show c.419-18311_419-18204del		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EML5_chr14_88607431_88797953	88796299	ATTATATA others(101): Show ATTATATATATATTATATGTTATATATATTATATATATATTATATGTTAT ATATTTTATATATATATTATATGTTATATATATTATATATATATTATATG TTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18980.hp1 NA18954.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0159 a0001c0001t0002g0160	2	330	0.0061	-108	c.-39 others(11): Show c.-3904_-3797del		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3347		chr14	TogoVar

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