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
FBLN7_chr2_112133385_112193218	112138860	CTGTCCCT others(856): Show CTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTGTCCCC TGTCCCGCGCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG CCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTC TCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCG CCTCTCTCCAGGCCAGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGT CCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCA GTGTCCTTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAG GCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCT CCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCT CTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCC GCCTCTCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCC TCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCG TCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCC AGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCA GGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTC TCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCC TCTCTCCACGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	-863	c.75+ others(14): Show c.75+174_75+1036del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FRMD4A_chr10_13638706_14335924	13675567	AATTTTGT others(856): Show AATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGG TCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTG CTGGGATTCCAGGTGTAAGCCACCGTGCCCAGCCCTAAAACGTATTTAAA ATGTTATTTTGTTCCCTTAAAAATACTTATTATTTTTGCTTAGTGCAAAG ATAATGTGTGTTTATGATGAAAACCCTGAAAATGTAGACAGGTATAAGAA ATAGTCCATTAACTAATCACCCAGAAATAACCATTGCTATGCATTTTCTT TTGGCCTTTTTTCTAAGTACATATATTTAAAAAATAAAATTAGAATGCTA TTGTATTTTTTAACTTCATGTTTTGTATCATGAGCAAATTCCCTCCTAAT AAAAGTTATACATATTTTAACATACTTTTCCTGGGTAAAACATGATGATT CAAATAGCAGAGTGCTCGATAGGAAACCTTGTGGAAGGCAAACTTCAAAC CAAACCAAAGGAAAATAAGCTGAAATGCCATCTGGAGGAATTTAGGTTAG ACCAAAGGAGTAATTTCTGGGCTGCCAGTGTTTGGATTCTGAAATAACTT TCCTGGAGTGAAGCTATTGTACTTTTTCTACCTTGATGGGTTAGAAAAGG AACACTGACTCTCTACAAAGGGAAAAGCTGATTATAACTTTTCTTTTCTT TTTCTTTTTTTTTTCAGACAGTTTCACTCTTGTTGCCCAGGCTGGAGTGC AGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGAGA TTCTCCTGCCTCAGCCTGCCAAGGTAGCTGGGATTACAGGCACCCGCCAC CACACCCAGCTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	134	0.0075	-863	c.111 others(18): Show c.1118-1386_1118-524del	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
JAK2_chr9_4980272_5134948	5133113	CATATAAA others(856): Show CATATAAAGCACAGAAATACAGTACATAAACAGATATGCAGTGATATTAG AGTGTCATGGTAGAGGAAATTAGGGAAAGATGTCTAAAATGTTCCTGGTG GGAAAGTTGGGGGAGGATAATGCAAAAAAAAAGTTGAGAAACACTACTTT AGAGTGTGCTCATATAGACATAGGTCAAACCAGCACTACCTCAGAAATAA CCTCAATATGATAAGCAGATACGACAGTGTCAGAAAAGCTAAGAGTACTA GATCTTTAAATAAATACTGAGCCAAAAAAAATAGTTTACACATAATCTTT TTAAAAAGTTACCTTATGTCACTCATACAGGAAAGCTCTGGCTGGCATCT AGTGGGTGCCCCTCTGGGATGAAGCTTCCAGAGGAAGGAACAGGCAGCAA TCTTTGCTGTTCTGCAGCCTCTGCTGGTGATACCCAGGCAAACAGCATCT GGAGTGGGCCTCCAGCAAACTCCAGCAGACCTGCAGCACAGGGGCCCGAC TGTTAGAAGGAAAACTAACAAACAGAAAGGAACAGTATCAACATCAACAA AATGTCCACTCAGAGACCCCACCCAAAGGTCACCAACATGAAGACCAAAG GTAGATAAATCCACTAAGATGGGGAGAAACCAGCAAGAAAAGGGTGAAAA TTCCAAATGCCAGAATGCCTCTTTTCCTCCAAAGGATCACAACTCCTCGC TAGCAAGGGAACAAAACTGGACTGAGAATGAGGTTGATGAATTGACAGAA GTAGGCTTCAGAAGGTTGGTAATTACAAACTCCTCTGAGCTAAAGGAACA TGTTCTAACCCAATGCAAGGAAGCTAAGAACACTGAAAAAAGGTTAGACA AATTGCTAACTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0207 a0001c0003t0016g0208 a0001c0003t0016g0207 a0001c0003t0016g0208	2	362	0.0055	-863	c.63 others(11): Show c.6323_*7185del	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		3166		chr9	TogoVar
LUC7L_chr16_183990_234449	186305	GGGGAACA others(856): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02145.hp2 HG01433.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0105 a0001c0001t0001g0107	2	318	0.0063	-863	c.20 others(11): Show c.2030_*2892del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2684		chr16	TogoVar
LUC7L_chr16_183990_234449	186322	GGGGAACA others(856): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18995.hp1 NA18747.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0034 a0001c0001t0001g0036	2	322	0.0062	-863	c.20 others(11): Show c.2013_*2875del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2667		chr16	TogoVar
PPP4R3A_chr14_91452508_91515310	91493186	TGAGACCA others(856): Show TGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTGTACTAAAAATACA AAAATTAGCCGGGCATGGTTGCTGTGAGCTGAGATTGCATCACTGCAATC CAGCCTGGTCAACAGAGACTCTGCCTCAAAAAAAAAAAAGAAAAAGAAAG AAAAAATAAATTAGCTGGATGAGGTAGGGCATGCCTATAATTCTAGCTAC TCAAGAGACAGGCAGGAGGATCTCCTGAGCCCAGAATCTCAAGACTACAG TGAGCCATGATTGCGCCACTACACTCTAGACTGGGTTCTAGACTGGGTGA TAAGAGATCCTGTCTCAAAAAACAAAGGCAAGGTGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGTCGAGATGGGAGGATTGCTTGAGGCTAG CCTGGTCTCATATATAGGATGGTGAGACCCCATACTATATATTTTTAATA TAAAATTTAAAAAAGGTATAAAAATCTCCAACTATCTTTGTAGTCTTTCA TTATTTTAATTACTAGAATAAAAATTGCATTCTATTATTCTCCACGGAAA TCATAAAGTATATAAAGTACATTATGGATCAATATTACTTTTTTTTTTTT TTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAATGTAATGGTGC AATCCCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTGATTGTCCTG CCTCAGCCTCCTGAGTAGCTGGGCATGTGCCACCATGCCTGGCTAATTTT GTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGA ATTCCCAACCTCAGATAATCTGCCCGCCTCGGCAGGCAGGTGGGTCACTT GAGGTCAGCAGTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02280.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 others(8): Show a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335	11	368	0.0299	-863	c.143 others(17): Show c.143-3247_143-2385del	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
SDHA_chr5_213320_262082	259949	CGCCAGAG others(856): Show CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGA CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGT GAGCTCCGCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	264	0.0038	-863	c.35 others(11): Show c.3530_*4392del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2868		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071000	GAGCCCCC others(856): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0105 a0001c0030t0001g0105	1	115	0.0087	-863	c.224 others(19): Show c.2241+1770_2241+2632del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129857374	GGGGGAAC others(856): Show GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTAT AACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGG ATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGA ACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCC TTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCG GGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGG ATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGA ACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCC TTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCG GGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCT TGTAACAGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	92	0.0109	-863	c.79+ others(17): Show c.79+45024_79+45886del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
ZNF516_chr18_76352682_76500242	76393370	GGGGAGGG others(856): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAG TCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01884.hp1 others(1): Show HG01257.hp1 HG01258.hp2 HG01884.hp1 HG02976.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0020 a0002c0003 a0008c0020	a0002c0003t0057 a0002c0003t0070 a0008c0020t0049 a0002c0003t0057 a0002c0003t0070 a0008c0020t0049	a0002c0003t0057g0223 a0002c0003t0070g0220 a0008c0020t0049g0005 others(1): Show a0002c0003t0057g0223 a0002c0003t0070g0220 a0008c0020t0049g0005 a0008c0020t0049g0007	4	341	0.0117	-863	c.181 others(21): Show c.1811-13930_1811-13068del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393375	GGGCAGGT others(856): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGG TGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0056 a0001c0001t0144g0056	1	304	0.0033	-863	c.181 others(21): Show c.1811-13935_1811-13073del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
GRTP1_chr13_113319163_113369130	113346599	CCTCTGTG others(855): Show CCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGA CCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACC CGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTG TGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCG GATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAG GACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCA GACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	285	0.0035	-862	c.466 others(17): Show c.466-2502_466-1641del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
VAV2_chr9_133756894_133997324	133827590	GGCATCGC others(855): Show GGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCA CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCC CACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGACCAC	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp2 NA19000.hp2 others(1): Show NA18948.hp1 NA18948.hp2 NA19000.hp2 NA19012.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0073 a0002c0001t0001g0123 a0002c0001t0001g0154 others(1): Show a0002c0001t0001g0073 a0002c0001t0001g0123 a0002c0001t0001g0154 a0002c0001t0002g0067	4	198	0.0202	-862	c.449 others(17): Show c.449+5820_449+6681del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
APOBEC1_chr12_7644400_7670908	7670047	CATCTTGG others(854): Show CATCTTGGCTCACTGCAACCTCCTCCTCCCGGGTTCAGGTGATTCTCTTG TCACAGTCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCCTGG CTGATTTTTGCATTTTTAGTAGAGATGGGGTTTCATCATGTTGGTCAGGC TGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCCCAGCCTCCCAAA GTGCTGGGATTACCAGGTGTGAGCCACCACACCTGGCCTTGTCCATTTTT TAATTGGGTTCTTTGTCTCATTACTGAGTTGTAAGAGTTTTTTACGTATT GTGGATACAAGCTTTGTCATATCTGTATACAAATGCTCCTCAGTTTACAA TGAAGTCATGTCTCCATAATCCCATCATAATTGCAAAATATTGTTAAGTT GAAAATTCATTTAATACACCTAACCTGGCCGGGTGCAGTGGCTCATACCT GCAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGGTCAG GAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCCACCTCTACTAAAA ATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTC CAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGTGG TGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAAGAAGAGCAAAAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAATACACCTAACCTACCAAACAT CATAGCCTAGCCTACCTTAAACATGCTGAGAACACTTATATTAGCCTACA CTTAGGCAAAATCATCCAACACAAGACTATTTTTAAATGAAGTGCTTAAC ATTTCATTCAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(85): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp2 NA18950.hp2 NA18952.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19043.hp1 NA19058.hp1 NA19065.hp1 NA19079.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0005c0006	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0005c0006t0001	a0001c0002t0001g0033 a0001c0002t0001g0295 a0001c0002t0001g0296 others(83): Show a0001c0002t0001g0033 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0322 a0001c0002t0001g0330 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0345 a0001c0002t0001g0358 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0368 a0001c0002t0001g0370 a0001c0002t0001g0380 a0001c0002t0002g0294 a0001c0002t0002g0344 a0001c0002t0002g0362 a0001c0002t0002g0371 a0001c0003t0001g0034 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0310 a0001c0003t0001g0312 a0001c0003t0001g0319 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0343 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0352 a0001c0003t0001g0354 a0001c0003t0001g0356 a0001c0003t0001g0357 a0001c0003t0001g0363 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0374 a0001c0003t0001g0376 a0001c0003t0001g0379 a0001c0003t0001g0381 a0001c0003t0001g0382 a0002c0001t0001g0311 a0002c0001t0001g0313 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0350 a0002c0001t0001g0351 a0002c0001t0001g0353 a0002c0001t0001g0355 a0002c0001t0001g0359 a0002c0001t0001g0367 a0002c0001t0001g0369 a0002c0001t0001g0375 a0002c0001t0001g0378 a0005c0006t0001g0320	88	430	0.2047	-861	c.-50 others(11): Show c.-5036_-4176del	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding		4140		chr12	TogoVar
FOXQ1_chr6_1307098_1319758	1318897	CCCCGTCA others(854): Show CCCCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGC CTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCG GGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG GTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGA AACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTT AGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTA AAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACT AGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAG CCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGG AGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCG CACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	404	0.0025	-861	c.49 others(11): Show c.4982_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4140		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132231927	GTGCCACA others(854): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTG TGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19080.hp1 NA19080.hp2 HG01978.hp1 NA19080.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0012 a0003c0037 a0001c0003 a0001c0012 a0003c0037	a0001c0003t0001 a0001c0012t0002 a0003c0037t0001 a0001c0003t0001 a0001c0012t0002 a0003c0037t0001	a0001c0003t0001g0123 a0001c0012t0002g0179 a0003c0037t0001g0010 a0001c0003t0001g0123 a0001c0012t0002g0179 a0003c0037t0001g0010	3	171	0.0175	-861	c.107 others(21): Show c.1077+15122_1077+15982del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
NKD2_chr5_1003802_1043943	1023580	CCAGCCCA others(854): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTC CCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTT CCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGC TGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCA GCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGT CCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCT CTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18612.hp2 NA18939.hp1 others(7): Show HG00438.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18951.hp1 NA18972.hp2 NA18981.hp1 NA19007.hp1 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0006t0009	a0001c0001t0005g0005 a0001c0001t0005g0085 a0001c0001t0005g0086 others(5): Show a0001c0001t0005g0005 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0006g0074 a0001c0001t0008g0087 a0001c0006t0009g0070 a0001c0006t0009g0094	10	188	0.0532	-861	c.142 others(17): Show c.142-8543_142-7683del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
TECPR2_chr14_102357941_102507477	102483923	CGTAGCTG others(854): Show CGTAGCTGGGATTATAGGCACCTGCCACCATGCCTGGCTGATTCTTATAT TTTCAGTAGAGACAAGGTTTCACCATGTTTGCCAGGCTGGTTTCGAACTC CTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCATTAGCTACTGTGCCCAGCCTGGAGGCTTCCTTTTGTATTGTGGAC TTTCTAAGCTGGCCTCCACTTTTCCTTTCTCTCCTGTTTCTGTCTTTTTA TGCTTTTATCCTGCTTTCTAGAAGACATTCTCAACCTTATTTCTCCAACC CTCTGTCAGATTATTTCCATGATCACATGTTTAATTTCTGAAAGTTCCTG TTGTTGTTTGATGGCTGTAGAGTCAGTCTTCTCTCATCTCCCTAAGGATG TTTTGGAAGTTTCTTCTCCCTGCCTGGTCTTTGTATGTCCCAAGTTGTGT GTTTTCTGTCTAGTTCGCCTTTTACATGGCAGAGGCTTTCTTCAGATGTT GGCAGTCCCCTGGTTGGAAGAGTGAGGCCCAGCAAGGCTGACTGGAAGCC CTGAGCACATGCATGGAGCCTGTGGGCCCCGCGGGTCTCTGACAGCAATC TGGCTGGGCTGCTGGGTGGGGAGTCGTTGCTTTTAGCCTTCCAGGGCCCG CTGAGTCCTTGCCATGCATCCCCCACTTTCCAGCTTCCAGAATTGTATGG CTGCTTCCTCCCCTCATTCTCTCTGTCCTTAGGAGATTTGAACCTTTTTT CTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGCCCG ATCTCAGCTCACTGCAGCCTCCCCCTCCTGTGTTCAAGCAATTCTCTGCC TCAGCCTCCCGA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03710.hp2 NA18940.hp2 others(1): Show HG02071.hp2 HG03710.hp2 NA18940.hp2 NA18947.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0018 a0006c0007t0023 a0006c0007t0018 a0006c0007t0023	a0006c0007t0018g0138 a0006c0007t0018g0140 a0006c0007t0018g0323 others(1): Show a0006c0007t0018g0138 a0006c0007t0018g0140 a0006c0007t0018g0323 a0006c0007t0023g0134	4	313	0.0128	-861	c.379 others(21): Show c.3790-13042_3790-12182del	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805408	TCCCCCCT others(853): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	263	0.0038	-860	c.12 others(11): Show c.1243_*2102del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1122		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805548	CGCAGGCC others(853): Show CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	252	0.0040	-860	c.13 others(11): Show c.1383_*2242del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1262		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132232288	GGGACAGC others(853): Show GGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTC CCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTA CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTACTGCCACACACTC CATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0014 a0001c0026t0014	a0001c0026t0014g0052 a0001c0026t0014g0052	1	182	0.0055	-860	c.107 others(21): Show c.1077+14762_1077+15621del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346205	CGGGAGGA others(853): Show CGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCG AGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCA GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGG AGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAG CAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCA GACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	260	0.0038	-860	c.466 others(17): Show c.466-2106_466-1247del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
NEU4_chr2_241804193_241822413	241805408	TCCCCCCT others(853): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	258	0.0039	-860	c.-38 others(11): Show c.-3869_-3010del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3784		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805548	CGCAGGCC others(853): Show CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0061 a0001c0005t0001g0061	1	256	0.0039	-860	c.-37 others(11): Show c.-3729_-2870del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3644		chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827191	CGGCGCTG others(853): Show CGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCC CGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCT CCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGC CTCGATGGCTCAGGCGTCATGCCTCCCGACGGGCGCTGCTCCCTGGCGCG CTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCCGCGGCCGCGATGGCT CAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAG GCGGAGGCCTCGACCCGGCCCGGTGGCGGCCTCGATGGCTCAGGCGTCAT GGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCT CGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGAC GGGCGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCT GGGCGGCGGCGGCCTGGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGC GTCATGGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGCCTC CCGACCGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACC TGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGAGGCGGCCTCGATGGCT CAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGACGCGCTCTGTTGAG GCGGCGGCCTCGACCCGGCCCGGCGGCGGCCGCGATGGCTCAGGCGTCAT GGCTCCCGACG	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	126	0.0079	-860	c.72+ others(13): Show c.72+138_72+997del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDHA_chr5_213320_262082	258579	CCAGAGCA others(853): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGC CCCCTGCCAGAGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCCTTGCCG TGAGCTCCGCCCTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC CGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCGCCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTG AGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0064 a0003c0006t0001g0064	1	264	0.0038	-860	c.21 others(11): Show c.2160_*3019del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1498		chr5	TogoVar
NEU4_chr2_241804193_241822413	241805786	TCCCCCCT others(852): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	306	0.0033	-859	c.-34 others(11): Show c.-3491_-2633del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3406		chr2	TogoVar
SLC8B1_chr12_113293771_113340109	113324956	AGCCTCCC others(852): Show AGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCTCCATGCCCAACCAG CTCTACCATCTAAGAGCTGTATCTGTAGCAATTCCCTTCCTCTCTTTGAG CTTCAGTCTCATTTGTAAAATGGGACTAATTATACCAACCCCATTGATAA AAGAATCAAATGAGATTACAGGTGTTCAAATTTGCCCTCCTCAGAGACTT TCCATGTAAAGTAGTTATTACCCCTATCTCCACTATTAATACCCAGTTTT CTGCATTCACAGCAGTTATCACAATCTTTATTTTGTTCATTTCCTTGTTT ACTGAATTTTATTATTTTAGAGACCAGGTGCTTTGTCACTCAGGCTGGAG TGCAGTGGGGCAATCATGGCTCACTTCAGCCTCGAACTCCTGGGCGCATG TGATCCTCCTGCCTTTGCCTCCCAAGTAGCTGGGACTACAGGCATGCACC ACCACACCCAGTTAATTTTTTTAAAAATTATTTTTTGTAGAGATGGAGGT CTTGCTATGTTGCCTAGGCTGGTCTTCAACTCCTGGCCTCAAGCCATCCT CCCACCTCAGCCTCCCATTGTGCTGGGATTATAGGCGTGAACCACCAAAC CTGGCCTTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGC CCAGGCCAGACTGCAGTGGCGCTATCTCGGCTCACGGCAAGTTCCGCCTC CCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCTCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATG GGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCC ACCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0238 a0006c0014t0003g0238	1	282	0.0035	-859	c.157 others(17): Show c.157-4467_157-3609del	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	2/15			chr12	TogoVar
THEG_chr19_356747_381026	376747	CCCCACCC others(852): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCC GTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCC CCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0038 a0001c0004t0004g0038	1	364	0.0027	-859	c.-16 others(10): Show c.-1636_-778del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		722		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(851): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	285	0.0035	-858	c.39 others(11): Show c.3949_*4806del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
CCDC200_chr17_43216420_43233623	43232765	GCCCTCAT others(851): Show GCCCTCATTCACGCCCAGAGAAGGGCCGCTGGAGGGCTCCTTGGCCTAGC GGTAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCT AGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACT ACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGG GAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAAC ACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGG ACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGC AAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAA ACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTA CCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAG GGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGA GAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAG AGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGG AGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAA AGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAA AGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGAC AGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03195.hp2 NA18963.hp1 HG00140.hp1 HG03195.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0201 a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0201	3	332	0.0090	-858	c.-50 others(11): Show c.-5069_-4212del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4143		chr17	TogoVar
CEP72_chr5_607340_658553	630163	GCCCAGTC others(851): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTG TCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCA GTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAAGTCCTGGTGG GGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCA GTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATT TGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCC TGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTC TGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCC GGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCC CAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTG GGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTATCC AGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGAT TTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTC CTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTT CTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGC TGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG00741.hp1 others(37): Show HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18942.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA18999.hp2 NA19065.hp1 NA19065.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0086 a0004c0004t0003g0005	40	90	0.4444	-858	c.513 others(17): Show c.513-3373_513-2516del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	630396	GACCCAAG others(851): Show GACCCAAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCC TGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTC TGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCC GGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCC CAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTG GGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCC AGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGAT TTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTC CTGGTGGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTT CTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGC CGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGC CCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGT GGGGTTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGGGTTCTGTCC AGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGAT TTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTC CTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTT CTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGC CGGGATTTA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18963.hp1 NA19007.hp2 NA18960.hp1 NA18963.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035	3	90	0.0333	-858	c.513 others(17): Show c.513-3372_513-2515del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
DGKB_chr7_14140049_14907751	14211317	TATTTACT others(851): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0082 a0001c0009t0002g0082	1	96	0.0104	-858	c.212 others(21): Show c.2123-34024_2123-33167del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
FBXO34_chr14_55266421_55358611	55284466	TGTGCCAT others(851): Show TGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAACCTCTGTCTCCAA AAAAAAAAAAAAAAAAAGTGAATGATTTATTTTCTTCTCTTTTTATTTGA TTCAGGGACCTAGCCTCTGGATTTTGAGTGTTTGTGGTTACCTAAAATTT TGTTACTTTTTTTTTTTTTTTTTGAAACAGGGTCTCTGTCACCCAAGCTA GAGTGTAGTGGTGCATTCTTAGCTCACTGCACCTCAACCACCCAGGCTCA AGCAATCTTTCCATCTCATCCTCCTGAGTAGATGGGACTACAGGCATGTG CCACCACGTCCAGCTGATTTTTGTATCTTTTGTAGAGATAGGGTTTCACG CCTTTGCCCAGGCTGGTCTTGAATTCCTGGACTCAAGTGATCCTCCCTCC TCAGCCTCCCAAAATGCTGTGAGAGTGCAGGCTTGAGCACCATATCTGGC CTTACCTTGGTTCTTACTGCAGTTGTCTTGTTTTGTTTTGTGAATCTTTA CCATGTTTATCTTGCTTTTAATTGTCCTATTTTAAAATGCAGAGAACATT CTCTCTGGCCAGGTGAGGTTAAAAAAAAAAAAAAACTGCAAAGATCAGTT GTAAAGCTTCTTTCAAGAATTGTTCCGGCCGGGCACAGTGGCTCACGCCT GTAATACCAGCAGTTTGGGAAGCCGAGGTGGGCGGATCACGTGAGTTCAG GAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAA ATACAAAATTAGCCAGGCGTGGTGGCGCATTCCTGGAATCCCAGCTACTT GGGCTGATTCAGAAGAATGGCTTGAACCCAGGAGGCAGAGGTTGCAGTGA GCCGAGGTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01074.hp2 others(11): Show HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG02738.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0156 a0005c0005t0003g0157 a0005c0005t0003g0158 others(11): Show a0005c0005t0003g0156 a0005c0005t0003g0157 a0005c0005t0003g0158 a0005c0005t0003g0159 a0005c0005t0003g0160 a0005c0005t0003g0161 a0005c0005t0003g0162 a0005c0005t0003g0163 a0005c0005t0003g0164 a0005c0005t0003g0165 a0005c0005t0003g0166 a0005c0005t0003g0167 a0005c0005t0003g0168 a0005c0005t0003g0169	14	332	0.0422	-858	c.-11 others(19): Show c.-11+12934_-11+13791del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
MPPED1_chr22_43407014_43512848	43496019	GTGGTGAT others(851): Show GTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGT GGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGG AGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTG GTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGT GGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGG TGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAG ATGGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGT GGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGG TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT GGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGG AGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTG GAGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTG GTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGG TGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	205	0.0049	-858	c.633 others(17): Show c.633-2210_633-1353del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC2_chr6_168436184_168672992	168614688	GGCCTCTT others(851): Show GGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGG GACCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGTACCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTT CACATCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCCGGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTTACATCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTT CACACCTACAGCCAGCACGGGGCCTTTTCACACCTACAGCCAGCATGGGG CCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGC ACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTA CAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACACGG CCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTACA GCCGGCACA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	178	0.0056	-858	c.907 others(17): Show c.907+6451_907+7308del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TRIP13_chr5_887884_923120	897411	TCAGTCAG others(851): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATT	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	376	0.0027	-858	c.388 others(16): Show c.388+683_388+1540del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898401	TCAGTCAG others(851): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	192	0.0052	-858	c.388 others(17): Show c.388+1805_389-1038del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAL3ST2_chr2_241771822_241809287	241806835	TTCCCTCC others(850): Show TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	-857	c.26 others(11): Show c.2670_*3526del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2549		chr2	TogoVar
SLC43A2_chr17_1564268_1633834	1594836	CCTTGGCC others(850): Show CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAA CCTTTTTTTCTTGTTTTAAGAGACAGGATCTGCTGGACGCAGTGGCTCAC GCCTGCAATCCCAGAGTGCTGCCTTTGACCTCAGAGTTTAAGACCAGCCT GGACAACATGGCGAAACCCTGCCTCTGTATCTTTTTAAAGTTAAAAAAAA GAGAGAGAGACAAGGGGGGCAGATCACCTGAGGTCAGGAATTCGAGATCA GCCTGGCAAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAG CCGGATGTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGG CAGGAAAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGACACT GCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTGTCAAAAA AAAAAAAAGAGAGAGAGAGACAGGGTCTCATTCTGTTGCCCAGGTGGGAG TGCAGTAATGCAATCATAGCTCACTGCAGCCTCCAACTTGGCTCAAGTGA TCTTCCCCCCCCAGCTCCCAAGTCACTGGGACAACAGGCCCACGCCACCA TGCCCCAGCTAGTGGTTTTTTTTTTGGAGGCAGGGTATCGCTCTGTCACC CAGGCTGGAATGCACTGACATGCAATCTTGGCTCTCTGCAACCTCCACCT CCCAAGTTCAAGCGAGTCTCCTGCCTCAGCGTCCTGTGTGGCTGGGACCA CAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTGTTAGTAGAGATA GGGTTTCACCATGCTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCGAT CCATCTAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0042 a0001c0001t0071g0042	1	380	0.0026	-857	c.502 others(17): Show c.502-2414_502-1558del	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
AGAP1_chr2_235489043_236136793	236068164	CGGAGGCT others(849): Show CGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGTAG TGAGCCAAGATCACGCCACTACACTCCAGCCTGGGCAACAGAGCAAGACT CCATCTCAAAAAAACAAAAAATCAAATAGCTAGCGCAGATCACTGTGAAA CATCTGATGGTAAAAAACAAAGGTCGTTTTGTTCCATAATATAATAACCC TTCCTGTTGGCCAACTCCCTCTCCTCTCCTCTGGCACTGCTGGTAAGAGT GAAAGTTGGGGAAACCTTCCTGGAAGGAACTTGGCAATATGTGTCAATAG CCTTTAAAATGATATGCTTTTTGACCTAGCAGTTCTTCTCTTAACATTTA TCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTG GTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAATTTATCCTAAAAACTGAAGGATGTAGGCTAGGCATGGTGGTT CACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAG GTCAGGAGATCGAGACCATCCTGGTCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCAAA CTGCTCG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0065 a0001c0001t0019g0065	1	98	0.0102	-856	c.211 others(21): Show c.2114+18898_2114+19753del	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLIC6_chr21_34663994_34723223	34700254	TGGCTAAC others(849): Show TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GTGCGTGGTGCCGGGCTCCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAGAAAAGAAAAGAATAAGAGAAATGATTTGGAGGCTGCTTTT TATAAAAAGGGAAACCTTAGTGAGGACTTCCTTACCTCACTACCTGCCTA AATAATTTCTTTTTAACTCCTGTATCATTATAACCCTTCTTCACGTGCTT CCGCATTCCCATGGTGTTGAACTTCAAGCTGTCATGGGGAGTGGCTGTGT TCTCCTCCCATTCCTTGGAATTCCCTCTCTTCGAGGGGGTGGTAGGAAAA GTCAGCCGCCCACTGCTCAGGCTTTCTTAACACCGACCCCAACAGTCAGA AGGGACCTTAGCCTTTTCACCGCTACAGAGGACTGTGGTGTCATTTCTGG AAAAGGAAGCAGTTCTCTGGACGCTTGCCACCTCCGCCACGGGTCAAGGT GTGCTCAGCCGTCCAGGTGAGCCCTTCTCTGGACCTTTCACAAGAGGTTT GTCTGGCTCCTAGATACGAATGCCTGGCCAGGGATTTTTGCCTTTTTGTC TCCTGGCTGAAGATCTGTTTGCTTTGCAATTTAGAAAGGGACTTAAGTTT TTAATTTTCACTTGGAGTAGGTATAGGATGTGTTACTTTTTAGGAGAAAA AAAATCAGTGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTG	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0213 a0002c0002t0003g0213	1	310	0.0032	-856	c.137 others(19): Show c.1375-7024_1375-6169del	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPHXL2_chr16_75655227_75682009	75671534	GACTGGAA others(849): Show GACTGGAAGCCCCAGAGAGCATGGCTTTTAGTCTATCTTATTTACTATTT TTTGAAAGCCTAAAGTAGTGCCTTATAAAAATAGACACTTTAAAGCACAA CATAGGCTGATTGAAAACAAAAAACCCCAAATAGAAACACAATAAATATT TTTTAAATGGGTGAATTAAAACAAATATTTATGAATGAAGTAACTGGTGT TAAACACTGATGCAAAAGCCCCGAGCCCTGAGAAAGACTAGAATGTTCTA GAAATAGCAAGGAAGACACTACGAATGGAGTACAAAGTGTGACTGAAAAA GAGAGAGGAGGCAAGGTGAGACAGTAAATGGAATCCAAATCAGGGGGGCT TGCAGCCATGTAAGGATGGCTTTTGCATGCTAATAAAGGGCAAAGATGTG GCTAGAATGGGGCGAGCCATGCTGTCACCTGGGACATGCTAAAAAACTCA TTAATCTAACGGGTGCGATGGCTCACACCTGTAATCCCAGCACTTTGGGA GCCTGAGGTGGGCGGATGACTTGAGGTCAAGAGTTCGAAACCAGCTTGGC CAACATGGTGAAACCGTCTCTACTAAAAAAAAAAGAAAAAAAAAAATCAG CTGGTCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGTGGCTGAGG CAGGAGAATCGCTTGAAACTGGGAGGCGGAGATTTTAGTGAGCCTAGATT GCACCACTGCACTCCTGCCTGGGCTACAGAGTGAGACTCCATCTCAAAAA AAAAAAAAAAATTTCCTTGATTGGCATTGGTTTACAATTTCAAAATAATT TCGCACGTATTGTAGGACAGAGCAAGTGAATATAAATTGAACCAGGGCAT TCACTGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	390	0.0026	-856	c.14- others(15): Show c.14-2834_14-1979del	CPHXL2	ENSG00000284484.1	transcript	ENST00000640173.1	protein_coding	1/2			chr16	TogoVar
DLGAP2_chr8_732628_1713476	990419	ACCCCCTG others(849): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCC GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCC CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-856	c.73+ others(17): Show c.73+82454_73+83309del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
ADARB2_chr10_1172313_1742525	1540550	GCCGTCCA others(848): Show GCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGAC CCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGTCCAGACCCCACT CAGACGCAGTTTGGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACG CAGTTCGGACTCTGGATCCGTCCAGATCCCACTCAGACGTAGTTCAGACC CTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCAGACCCTGGAT CACAGCCATCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCC AGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCC CACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGC AGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCAGACTCAGTTCA GACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCT GGATCACAGCCGCCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCA CAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCG TCCAGACCCCACTCACACTCAGTTCAGACCCTGGATCACAGCCGCCCAGA CCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCAC TCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTT CGGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACC CTGGAT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	99	0.0101	-855	c.101 others(21): Show c.101-162245_101-161391del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
CLIC6_chr21_34663994_34723223	34700229	CGAGGTCA others(848): Show CGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGTGCGTGGTGCCGGGCTCCTGTGGT CCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAATAA GAGAAATGATTTGGAGGCTGCTTTTTATAAAAAGGGAAACCTTAGTGAGG ACTTCCTTACCTCACTACCTGCCTAAATAATTTCTTTTTAACTCCTGTAT CATTATAACCCTTCTTCACGTGCTTCCGCATTCCCATGGTGTTGAACTTC AAGCTGTCATGGGGAGTGGCTGTGTTCTCCTCCCATTCCTTGGAATTCCC TCTCTTCGAGGGGGTGGTAGGAAAAGTCAGCCGCCCACTGCTCAGGCTTT CTTAACACCGACCCCAACAGTCAGAAGGGACCTTAGCCTTTTCACCGCTA CAGAGGACTGTGGTGTCATTTCTGGAAAAGGAAGCAGTTCTCTGGACGCT TGCCACCTCCGCCACGGGTCAAGGTGTGCTCAGCCGTCCAGGTGAGCCCT TCTCTGGACCTTTCACAAGAGGTTTGTCTGGCTCCTAGATACGAATGCCT GGCCAGGGATTTTTGCCTTTTTGTCTCCTGGCTGAAGATCTGTTTGCTTT GCAATTTAGAAAGGGACTTAAGTTTTTAATTTTCACTTGGAGTAGGTATA GGATGTGTTACTTTTTAGGAGAAAAAAAATCAGTGAGGCCGAGGCGGGTG GATCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(90): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014	a0001c0003 a0001c0011 a0001c0025 others(15): Show a0001c0003 a0001c0011 a0001c0025 a0002c0002 a0002c0004 a0002c0009 a0002c0015 a0002c0019 a0002c0020 a0002c0021 a0002c0023 a0002c0024 a0003c0005 a0003c0014 a0004c0006 a0006c0013 a0008c0012 a0014c0033	a0001c0003t0021 a0001c0003t0034 a0001c0011t0025 others(37): Show a0001c0003t0021 a0001c0003t0034 a0001c0011t0025 a0001c0011t0058 a0001c0025t0059 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0061 a0002c0004t0008 a0002c0004t0023 a0002c0009t0030 a0002c0009t0056 a0002c0015t0050 a0002c0019t0003 a0002c0020t0003 a0002c0021t0040 a0002c0023t0037 a0002c0024t0003 a0003c0005t0049 a0003c0005t0060 a0003c0014t0028 a0004c0006t0029 a0004c0006t0048 a0004c0006t0051 a0006c0013t0035 a0006c0013t0089 a0008c0012t0019 a0014c0033t0047	a0001c0003t0021g0181 a0001c0003t0021g0182 a0001c0003t0021g0183 others(77): Show a0001c0003t0021g0181 a0001c0003t0021g0182 a0001c0003t0021g0183 a0001c0003t0034g0018 a0001c0011t0025g0241 a0001c0011t0025g0243 a0001c0011t0058g0242 a0001c0025t0059g0247 a0002c0002t0003g0009 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0196 a0002c0002t0003g0208 a0002c0002t0003g0211 a0002c0002t0003g0214 a0002c0002t0003g0217 a0002c0002t0003g0230 a0002c0002t0004g0002 a0002c0002t0004g0021 a0002c0002t0004g0055 a0002c0002t0004g0189 a0002c0002t0004g0199 a0002c0002t0004g0202 a0002c0002t0004g0204 a0002c0002t0004g0206 a0002c0002t0004g0210 a0002c0002t0004g0216 a0002c0002t0004g0233 a0002c0002t0004g0234 a0002c0002t0004g0239 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0221 a0002c0002t0008g0222 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0008g0228 a0002c0002t0010g0219 a0002c0002t0015g0009 a0002c0002t0015g0193 a0002c0002t0015g0200 a0002c0002t0015g0203 a0002c0002t0018g0201 a0002c0002t0018g0207 a0002c0002t0022g0220 a0002c0002t0022g0223 a0002c0002t0026g0053 a0002c0002t0036g0009 a0002c0002t0038g0215 a0002c0002t0039g0023 a0002c0002t0041g0227 a0002c0002t0042g0198 a0002c0002t0043g0002 a0002c0002t0061g0054 a0002c0004t0008g0019 a0002c0004t0023g0020 a0002c0009t0030g0050 a0002c0009t0030g0052 a0002c0009t0056g0049 a0002c0015t0050g0051 a0002c0019t0003g0205 a0002c0020t0003g0224 a0002c0021t0040g0237 a0002c0023t0037g0262 a0002c0024t0003g0209 a0003c0005t0049g0032 a0003c0005t0060g0033 a0003c0014t0028g0010 a0004c0006t0029g0240 a0004c0006t0029g0246 a0004c0006t0048g0245 a0004c0006t0051g0244 a0006c0013t0035g0046 a0006c0013t0035g0047 a0006c0013t0089g0048 a0008c0012t0019g0002 a0008c0012t0019g0021 a0014c0033t0047g0035	93	310	0.3000	-855	c.137 others(19): Show c.1375-7037_1375-6183del	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPF3_chr14_72604034_72899101	72866243	AGTCTGTT others(848): Show AGTCTGTTCCTGCCACAGCCTCCACGCACAAGCCATCCTGCAAATTAATC ACCCTCAACATTCATCGTGCCAAACCTTAAGTAACTCCCCAGCACCTGCA GGATCAGTGCCAAACTTTTCGCCCAAGTATTTATAATCAGGTCCTTCGTG ACCTGTCCAGCTTCTCTCTCCCAGTGACCTGGCTGGTGTTCTCACTGCTC CTTTCTGAACCCAAGCTTATTCGAATGCACAGGCTCAGGTACCCGCCTCT GCTCCATCGATACCAGCCATGGAGTCTTGGGCAAATCTTGGGCAACTCCT TGGAGTTTTCTCATCGATAAAAAAGTTAATATGGCTGGGTGTGGTGGCTC ACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGA GGTTGGGAGTTTGAAACCAGCCTGACCAACACGAAGAAACCCCATCTCTA CTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGATG TTGCAGTGAGCGAAGTTTGCACCATTGCACTCCAGCCTGGGCAACAAGAG CGAAACTCCATCCGACTCGTGATCCACCCGACTCGGCCTCCCAAAGTGCT GGGATTATAGGAGTGAGCCATCATGCCTAGCCCACTGGTACTCATTTTCT AAGGGTATTCTTTTCTAACCAGACCACGAAATCTCCAGGCTACCTCAAGG GTCTTACAAGGAGGAAGCAAAGGCCTAGGTGCCCAAATACTGGTATTTCA ACAGGACGGCTTTTATTTTTAATAAAATAATTTTTATAGAGATGGGGTCT CACTGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02735.hp2 others(1): Show HG01261.hp1 HG02109.hp2 HG02735.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024	a0001c0001t0002g0050 a0001c0001t0003g0049 a0001c0001t0006g0220 others(1): Show a0001c0001t0002g0050 a0001c0001t0003g0049 a0001c0001t0006g0220 a0001c0001t0024g0014	4	232	0.0172	-855	c.32+ others(17): Show c.32+26959_32+27813del	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
FAM210A_chr18_13658347_13731558	13674584	ACTTTATT others(848): Show ACTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTT GATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTT TCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCCAGTTTTCTGAT TATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAAC ATTCCTGAGCCCTGGCTTCTTGATTTCCAGTTTCCTGATTATTAACATTC CTGAGCCCCGACTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGA GCCGTGACTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGC TTCTTTATTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCT TTATTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCCAACTTCATTAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTCTTTATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCCAGCTTCTTTATTTCCTGTT TCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCT GATTATTAACATTCCTGAGCCCCGACTTCATTATTTCCAGTTTCCTGATT ATTAACATTCCTGAGACCCGACTTCATTTCCAGTTTCCTGATTATTAACA TTCCTGAGCCCTGGCTTCTTTATTTCCAGTTTCCTGATTATTAACATTCC TGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCC TGGCTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0104 a0001c0001t0011g0106 a0001c0001t0011g0104 a0001c0001t0011g0106	2	225	0.0089	-855	c.474 others(17): Show c.474-3466_474-2612del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
PCGF3_chr4_700832_775089	745495	GCCCCGGG others(848): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0301 a0001c0001t0007g0301	1	361	0.0028	-855	c.462 others(16): Show c.462+811_462+1665del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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