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
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(590): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0026 a0001c0064t0001g0026	1	171	0.0058	597	c.85- others(614): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTG CCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(590): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGA AGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0308 a0002c0011t0002g0308	1	180	0.0056	597	c.85- others(614): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCT TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(590): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01070.hp2 others(2): Show HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0013 a0002c0031 a0003c0027 a0001c0013 a0002c0031 a0003c0027	a0001c0013t0001 a0002c0031t0002 a0003c0027t0002 a0001c0013t0001 a0002c0031t0002 a0003c0027t0002	a0001c0013t0001g0004 a0002c0031t0002g0306 a0003c0027t0002g0324 others(1): Show a0001c0013t0001g0004 a0002c0031t0002g0306 a0003c0027t0002g0324 a0003c0027t0002g0325	5	184	0.0272	597	c.85- others(614): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(590): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAG ACGTGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAG GATCATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGG GGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTG AGGATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGG AAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGT GAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	23	0.0435	597	c.177 others(614): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGATGTGTGAGGATC ATAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGG GACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAG GATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGA AGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAG GATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGG ACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(590): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCA TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(18): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG01167.hp2 HG01346.hp2 HG02622.hp1 HG03041.hp2 NA18612.hp2 NA18747.hp2 NA18950.hp1 NA18964.hp2 NA18971.hp1 NA18983.hp2 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0012 a0001c0013 others(3): Show a0001c0002 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0008c0019	a0001c0002t0002 a0001c0012t0002 a0001c0013t0002 others(3): Show a0001c0002t0002 a0001c0012t0002 a0001c0013t0002 a0002c0003t0002 a0002c0004t0002 a0008c0019t0002	a0001c0002t0002g0008 a0001c0002t0002g0036 a0001c0002t0002g0041 others(17): Show a0001c0002t0002g0008 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0190 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0292 a0001c0012t0002g0288 a0001c0012t0002g0289 a0001c0013t0002g0010 a0002c0003t0002g0119 a0002c0003t0002g0132 a0002c0003t0002g0310 a0002c0004t0002g0305 a0008c0019t0002g0246	21	23	0.9130	597	c.13 others(608): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(590): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC TGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCA TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0296 a0002c0004t0002g0296	1	3	0.3333	597	c.13 others(608): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(590): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC TGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCA TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01070.hp2 others(20): Show HG00438.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01993.hp2 HG02132.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG03927.hp2 NA18947.hp1 NA18950.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19005.hp2 NA19082.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0004 a0006c0018 a0001c0005 a0002c0004 a0006c0018	a0001c0005t0002 a0002c0004t0002 a0002c0004t0014 others(1): Show a0001c0005t0002 a0002c0004t0002 a0002c0004t0014 a0006c0018t0002	a0001c0005t0002g0001 a0001c0005t0002g0042 a0001c0005t0002g0043 others(17): Show a0001c0005t0002g0001 a0001c0005t0002g0042 a0001c0005t0002g0043 a0001c0005t0002g0076 a0001c0005t0002g0109 a0001c0005t0002g0203 a0001c0005t0002g0243 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0308 a0001c0005t0002g0315 a0002c0004t0002g0002 a0002c0004t0002g0020 a0002c0004t0002g0293 a0002c0004t0002g0297 a0002c0004t0002g0302 a0002c0004t0002g0316 a0002c0004t0002g0324 a0002c0004t0014g0300 a0006c0018t0002g0001	23	25	0.9200	597	c.13 others(608): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(590): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGG AGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0191	1	164	0.0061	597	c.923 others(616): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCT CCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTC CATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATT CCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2227761	A A	AAGGGAGG others(590): Show AAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAG GGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGAGGG GAAGGGAGGGAGGGAAGGAGGGAGGAAGGGAGGGAGGGAAGGAGGGAGGA AGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGGG GAAGGGGGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	45	0.0222	597	c.805 others(614): Show c.805-6533_805-6532insCCCTCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC CTCCCTCCCTTCCCCCCTTCCCCCCTCCCTCCCTCCCTTCCCCCCTCCCT CCCTCCCTCCCTCCCTTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCCTCCCTCCCTCCCTTCCTCCCTCCTTCCCTCCCTCCCTTCCTCC CTCCTTCCCTCCCTCCCTTCCCCTCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTTCCCTC CCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(590): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACCATCAC CACCACCTCCACCATCACCACCACCACCACCACCACCACCACCTCCACCA CCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATC GCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02055.hp1 HG02572.hp2	a0001 a0010 a0001 a0010	a0001c0065 a0010c0161 a0001c0065 a0010c0161	a0001c0065t0014 a0010c0161t0002 a0001c0065t0014 a0010c0161t0002	a0001c0065t0014g0084 a0010c0161t0002g0234 a0001c0065t0014g0084 a0010c0161t0002g0234	2	156	0.0128	597	c.323 others(616): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACCACCACCACCACCTCCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCAT CACCACCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCA CCACCACCACTTCCACCATCACCACCACCTCCACCATCACCACCACCACC ACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCTTCCT others(590): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	184	0.0054	597	c.105 others(614): Show c.105-1248_105-1247insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCT CCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158916146	T T	TCGTTGAC others(590): Show TCGTTGACATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTA AGGATGATTGTGAAACATCAACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACAC GCTGGTTGACATTAAGGATGATTGTGAAACATCGACACACTGGTTGACAT TAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATGG TGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACCTCGAC ACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACACTGGTTGAG ATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGAT TGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCAACACGGTGGTTGACATTAAGGATGATTGTGAAACGTTGCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	272	0.0037	597	c.179 others(616): Show c.1791+1825_1791+1826insCGTTGACATTAAGGATGATTGTGAAA CCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACATCAACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAA GGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGA AACATCGACACACTGGTTGACATTAAGGATGATTGTGAAACCTCGACACG GTGGTTGAGATTAAGGATGATGGTGAAACCTCGACACGGTGGTTGAGATT AAGGATGATTGTGAAACCTCGACACGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACACTGGTTGAGATTAAGGATGATTGTGAAACGTCGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTG AAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCAACACGGTGGTTGACATTAA GGATGATTGTGAAACGTTGCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24			chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GTTGGTGT others(590): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	157	0.0064	597	c.86- others(610): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(590): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	175	0.0057	597	c.238 others(618): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(590): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATATTAT ATATTATATATCATATATATCATATATATTATATATCATATATCATATAT ATCATATATATTATATATCATATATCATATATATCATATATATTATATAT CATATATCATATATATCATATATATTATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0051 a0002c0006t0004g0051	1	202	0.0050	597	c.-22 others(608): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATGATAT ATAATATATATGATATATATGATATATGATATATAATATATATGATATAT ATGATATATAATATATAATATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATGATATATATAATATATGATATATATGATAT ATGTGATATATGATATATATGATATATGTGATATATGTGATATATGATAT ATGTGATATATGTGATATATGATATATGTGATATATGTGATATATGATAT ATGTGATATATGATAATGATATGATATATATGATATGATATATATGATAG ATCATATATGATCTCATATATATGATATATATGATATAATATATGATCTA TCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
GALR1_chr18_77244848_77282900	77252914	C C	CCACCACC others(590): Show CCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCACTACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	350	0.0029	597	c.666 others(614): Show c.666+1708_666+1709insCCACCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCATCACCACCACCACTACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCATCACC ACCATCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(590): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	325	0.0031	597	c.467 others(612): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(590): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCACCACCACCACCACCACCACCACTACCACCACCACCACTACCACCACC ACCAAATACCACCACCACCATGTCCACCACCACTACCACCACCATCACCA TCACCATCACCATCATCACCATCACCACTACCACCACCACCACCACCACC ATCATCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAA ATACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACC ATCACCATCATCACCATCACCACTACCACCACCACCACCACCACCATCAT CACCATCACCACCATCACCACCACCACCACCACCACCACCACCAAATACC ACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCAC CACCACCACCACCACCACTACCACCACCACCAGCACCACCACCATCACCA TCATCACCATCACCACTACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0090 a0002c0004t0001g0090	1	200	0.0050	597	c.962 others(614): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCACCACCACTACCACCACCACCACTA CCACCACCACCAAATACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCACCATCACCATCATCACCATCACCACTACCACCACCACCA CCACCACCATCATCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCATGTCCACCACCACTACCACCACCATCA CCATCACCATCACCATCATCACCATCACCACTACCACCACCACCACCACC ACCATCATCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CAAATACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATC ACCATCACCACCACCACCACCACCACTACCACCACCACCAGCACCACCAC CATCACCATCATCACCATCACCACTACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPIHBP1_chr8_143208218_143222170	143218189	C C	CAACACCA others(590): Show CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAC ACCCCCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACC ATCCCCCCACACCACCCCCCAACACCACCCAACACCACCCCACACCACCC CCACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCACCCCCAACACCATCCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACC CCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCAC ACCACCCCCAACACCACCCCCAACACCACCCCCCACACCACCCCCAACAC CACCCCCACACCACCCCCAACACCACCCCAACACCACCCCACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	87	0.0115	597	c.26 others(608): Show c.2671_*2672insAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCCACACCCCCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCA ACACCACCCAACACCATCCCCCCACACCACCCCCCAACACCACCCAACAC CACCCCACACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACAC CACCCCAACACCACCCCACACCACCCCCAACACCACCCCCACACCACCCC CAACACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCCA CACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACC ACCCCACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1020		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635552	G G	GTCTTCCC others(590): Show GTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCT GCCCCCGCCCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCC CCGACCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCAC CCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTC CTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGT CCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTG GGGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAG GCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCG TGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	268	0.0037	597	c.163 others(614): Show c.163-2286_163-2285insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGG AGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCC GTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCC CGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGAC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCA CTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCC TGTCCTGGGAGGCTGTATC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635640	C C	CGTGTCTT others(590): Show CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCT GCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCC CCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGC CCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTC CTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGGCCACTCCTGT CCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTG GGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGA CCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGAGGACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG01884.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0063 a0001c0001t0019g0064 a0001c0001t0004g0063 a0001c0001t0019g0064	2	197	0.0102	597	c.163 others(614): Show c.163-2195_163-2194insTTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCC TGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGG GGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGAC CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCT GCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCC CCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGC CCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCA CTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCC TGTCCTGGAGGACTGTGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635747	C C	CCCCACTC others(590): Show CCCCACTCCCAGCCACCCCTGTCCAGGGGAACCGTGTCTTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCC CTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGG CCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCAC TCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGAGACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGGGACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGG GGACCGTGTCTTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGC TGTATCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTG TCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCACCCCCAGCCACTCCTGTCCTGGAGGACTGTGTCCTCCCTG CCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	207	0.0048	597	c.163 others(614): Show c.163-2090_163-2089insACTCCCAGCCACCCCTGTCCAGGGGAAC CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCT GCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCC CCGCCCCCGGCCACTCCTGTCCTGGGAGACCGTGTCCTCCCTGCCCCCAC CCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCC GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGGCC ACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCCGGCCACTC CTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTC CTGGGGGACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGG AGGACTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAG CTGTGTCCTCCCTGCTCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP6_chrX_299759_323796	321751	C C	CAAAAAAA others(590): Show CAAAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAA AAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGTTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0141 a0001c0003t0003g0141	1	134	0.0075	597	c.-29 others(608): Show c.-2965_-2964insTTTGTAGATAATGGGGTCTTACCATATTGCCCAT GCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCG AGCAGCTGGGACCACAGGCAACCACCACCACGCCCGGCTAATTTTTCTTT TCTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCAT GCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCG AGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTT TCTTTTCTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCA TGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCC GAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTT TTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGT CAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTG GGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTTT TTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2956		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(590): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	104	0.0096	597	c.-37 others(608): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG TGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTT TTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(590): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	104	0.0096	597	c.-37 others(608): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTG GCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTT TTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG TGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTT TTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(590): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAG CATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA GAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	43	0.0233	597	c.-37 others(608): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCC GGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTA CCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGG CTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAG GGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCA CGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGC TAATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(590): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGC ATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAA GAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA19064.hp2 HG00423.hp1 NA19064.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0002 a0009c0012t0002 a0001c0001t0002 a0009c0012t0002	a0001c0001t0002g0033 a0009c0012t0002g0038 a0001c0001t0002g0033 a0009c0012t0002g0038	2	44	0.0455	597	c.-37 others(608): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCC GGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTT ACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCC ACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAG GCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAG GGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCA CGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGC TAATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(590): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCT CTACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0039 a0019c0039t0039	a0019c0039t0039g0008 a0019c0039t0039g0008	1	19	0.0526	597	c.520 others(618): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30141029	T T	TCTCTGTC others(590): Show TCTCTGTCACCCAGGCTGGAGTGCAGTGGAATGACCTCGGCTCACTGCAA CCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAG CTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTGTATTTTTA GTAAAGACGGGGTTTCACCATGTTGGCCAGGCTTGTCTCAAACTCCTGAC TTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACCTCTGATTTCCCTTTTGATTTATTCTTTGATCCATTGGTTAT TAGGAGTATGTTGTTTAATTTCCACATACTTTTTTATTTAATTTTTTTAT TTCCATAGGTTATCAGGGAACAGGTGGTGTTTGGTTACATGAGTAAGTTC TTTAGTTGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATA CACTGTACTCAATTTGTAGTCTTTTATCCCTCAAGCCCTTCCACATACAT TTGAGTTTTCCAAATCTTATTCTGTTATTAGCTTCTTATTTCATTCCAGT GAGGTCAGAGAACATACTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	348	0.0029	597	c.819 others(616): Show c.819+18844_819+19440dupAATGACCTCGGCTCACTGCAACCTCT GCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCATGTCCAGCTAATTTTTGTATTTTTAGTAAA GACGGGGTTTCACCATGTTGGCCAGGCTTGTCTCAAACTCCTGACTTCAA GTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACCTCTGATTTCCCTTTTGATTTATTCTTTGATCCATTGGTTATTAGGA GTATGTTGTTTAATTTCCACATACTTTTTTATTTAATTTTTTTATTTCCA TAGGTTATCAGGGAACAGGTGGTGTTTGGTTACATGAGTAAGTTCTTTAG TTGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACACTG TACTCAATTTGTAGTCTTTTATCCCTCAAGCCCTTCCACATACATTTGAG TTTTCCAAATCTTATTCTGTTATTAGCTTCTTATTTCATTCCAGTGAGGT CAGAGAACATACTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC ACCCAGGCTGGAGTGCAGTGG	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
ICA1_chr7_8108184_8267167	8152883	A A	ACCACCAC others(590): Show ACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCA TCACCACTACCACCACCACTATCACCATCACCATCACCTCCACCACCACC ACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCAC CTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCA CCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACC ACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCAT CACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCA CCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACC ACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCAT CACCATCACCTCCACCACCACCACCACCACCATCTCCTTCAACACCACTA CCCCCACCACTACCACCATCACCTCCTCCGCCACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	272	0.0037	597	c.804 others(614): Show c.804+4232_804+4233insAGGTGATGGTGATGGTGGCGGAGGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGG TGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGG AGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTA GTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGAT AGTGGTGGTGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGG TGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATAATTGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFI35_chr17_43001784_43019456	43017098	G G	GAGGTTGC others(590): Show GAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCAAAA AGAGCGAAACTCCGTCTCAAAAAAAAAAACAAAACAAAACAAACAAAAAA ACCCACAACAATACAAAAATTAGCCAGGTATGGTGGCGTGCGCCCGCAGT CCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGGT GGAGGTTGCAGTGAGCCGAGATCGTGTCACTGCACTCCAGCCTGGGTGAC AGCCAGACTCTGTCTCAAGAAAAAGAAAAAAAAAAAGCCAGGCGTGGAGA TGGGCACCTGTAATTCCAGCTACTCAGGAGCCTGAGGCAGAACTGCTTGA ACCAGGGAGGTGGATGCTGCAGAGAGCCGAGGTTGCGCCACTGCACTCCA GGATGGGTAACAGAGTGATATTCTGTCTCAAAAAAAAAAAAATTGCTCTA ATCTTTATGTATTTGCTTGTTTGTTCATTTGTTTGAGTCAGGGTCTCGCT CTGTTGCCCAGGCTGGAGTACAGTGCCACCACACCTGGCTAATTTTTGTA TTTTTTGTGGAGATAAGGTTACACCATGTTGACCAGGCTGGTCTCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	80	0.0125	597	c.27 others(608): Show c.2799_*2800insAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACT TCAGCCTGGGCAAAAAGAGCGAAACTCCGTCTCAAAAAAAAAAACAAAAC AAAACAAACAAAAAAACCCACAACAATACAAAAATTAGCCAGGTATGGTG GCGTGCGCCCGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGC TTGAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGTCACTGCAC TCCAGCCTGGGTGACAGCCAGACTCTGTCTCAAGAAAAAGAAAAAAAAAA AGCCAGGCGTGGAGATGGGCACCTGTAATTCCAGCTACTCAGGAGCCTGA GGCAGAACTGCTTGAACCAGGGAGGTGGATGCTGCAGAGAGCCGAGGTTG CGCCACTGCACTCCAGGATGGGTAACAGAGTGATATTCTGTCTCAAAAAA AAAAAAATTGCTCTAATCTTTATGTATTTGCTTGTTTGTTCATTTGTTTG AGTCAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGCCACCACACC TGGCTAATTTTTGTATTTTTTGTGGAGATAAGGTTACACCATGTTGACCA GGCTGGTCTCGAA	IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding		2643		chr17	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(590): Show CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCTCCACAGAACCGGACC CCTCCCCTCCCCTCCCTCCACAAAACCGAACCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0228 a0003c0005t0019g0228	1	113	0.0088	597	c.258 others(614): Show c.2584-159_2584-158insCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAAAACCGAACCCCTCCCCTCTCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(590): Show CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTC TCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCC CCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTAT CCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCC CCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCT CTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0095 a0002c0005t0002g0095	1	141	0.0071	597	c.11 others(618): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTC CCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTC CCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCC CTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTC CCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCC CCCTCCTTCCCTCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997184	G G	GGGGGGCG others(590): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATGTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG ATGGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT GGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0353 a0001c0010t0023g0353	1	340	0.0029	597	c.-22 others(608): Show c.-2285_-2284insGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGTCGGGGGAATGTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATAGGGTCGGG GGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		486		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(590): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	77	0.0130	597	c.-27 others(608): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(590): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	77	0.0130	597	c.-27 others(608): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(590): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18982.hp2 NA19067.hp1 others(1): Show HG02015.hp1 NA18982.hp2 NA19067.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0054 a0001c0001t0003g0002 a0001c0001t0003g0054	4	80	0.0500	597	c.-27 others(608): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(590): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02004.hp2 HG00438.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0003g0002 a0001c0001t0005g0005	2	78	0.0256	597	c.-27 others(608): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(590): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGC CCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0022 a0001c0037t0002g0022	1	166	0.0060	597	c.66 others(608): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCC TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATATAAA others(590): Show TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATACATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATATTATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	213	0.0047	597	c.125 others(614): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATACATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATATTATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(590): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATAATATATAATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	247	0.0040	597	c.-31 others(608): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT TATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(590): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC TGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0217 a0005c0005t0006g0217	1	32	0.0313	597	c.218 others(612): Show c.2189-97_2189-96insAGGCGCGGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGG CACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGTGCAGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACAGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGC CAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(590): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCAC CCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCC ATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCAT CCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCAT CCCAAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCAT CCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCC ATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCAC CCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCC ATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCAC CCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0052 a0001c0001t0017g0052	1	191	0.0052	597	c.55 others(608): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTTGGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGT GCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAG GTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGAT GAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGG GTTGGTGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG AACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AAAGGGAG others(590): Show AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0194 a0001c0006t0017g0194	1	131	0.0076	597	c.225 others(614): Show c.225-2158_225-2157insAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGG GAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGGAAAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MSLN_chr16_755734_773862	767546	A A	AGGGGGGG others(590): Show AGGGGGGGGCCAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAG CGGGAGGAGGGGCGCGTGGACGGGGTGCGTGGAGGAGGGGCGCGTGGGGG GGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGG GCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCAC GTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGG GTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGG CGTGTGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACATGGGGGTGCGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0296	1	326	0.0031	597	c.159 others(612): Show c.1596+83_1596+84insGCCAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGG AGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGACGGGGTGCGTGGAGGAGG GGCGCGTGGGGGGGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGG CGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAG GGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGC GTGGAGGGGGGGCGTGTGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGG GGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGA GGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACAT GGGGGTGCGTGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(590): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGG GGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATGG GGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCG TGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGG GCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGG GCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGTGTGGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	218	0.0046	597	c.159 others(614): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGGGGG TGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGA GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCG CATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGG GGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGG GGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGGCC GTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGAGGAGGGGCGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGTGTGGGGGGGTGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(590): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAG GGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAG GCATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	130	0.0077	597	c.148 others(616): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGATGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCG CTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCAT CCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCT GGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYO9A_chr15_71817291_72123150	72101242	T T	TGGGGGGG others(590): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCAGGGAGGGAGG TGGGTTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCAGGAGGGAGGTCGG GGCGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCG CCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCCGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTAGGCGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCAGGGAGGGAGGTGGGGGGGTTCAGCCCCCCGCCAGGCCAGC CGCCCCGTCCGGGAGGGAGGTCGGGGCATCAGCCTCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCTGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	1	300	0.0033	597	c.-72 others(616): Show c.-72+16437_-72+16438insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCA CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGATGCCCC GACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAACCCCCC CACCTCCCTCCCTGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCGCCT ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCGGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCGCCAC CTCCCTCCCGGACGGGGCGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCT GGCCGGGCGGGAGGCTGACGCCCCGACCTCCCTCCTGGACGGGGCGGCTG GCCTGGCGGGGGGCTGAACCCACCTCCCTCCCTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41			chr15	TogoVar
NR2F6_chr19_17226883_17250919	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCA GTGGCACAACCTCGGCTCGCTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02922.hp2 others(1): Show HG01891.hp2 HG02258.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0003t0001g0222 others(1): Show a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223	4	394	0.0102	597	c.-41 others(608): Show c.-4196_-4195insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCC CGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGG AGGCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGG TGACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCA CACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAA AAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAG GCTGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGCGAGC CGAGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCT CAAAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGC TTAATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCAC CTGAGGCCAGGAG	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		3497		chr19	TogoVar
NR2F6_chr19_17226883_17250919	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCA GTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02280.hp2 others(6): Show HG00735.hp1 HG01884.hp2 HG02280.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0213 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0003t0001g0216	9	399	0.0226	597	c.-41 others(608): Show c.-4196_-4195insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCC CGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGG AGGCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGG TGACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCA CACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAA AAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAG GCTGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGC CGAGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCT CAAAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGC TTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCAC CTGAGGCCAGGAG	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		3497		chr19	TogoVar

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