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
COL4A3_chr2_227159624_227319792	227203759	A A	ATATGTGT others(191): Show ATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGTATGT GTGTATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGT ATATGTGTGTATATGTGTATATATACGTATATGTGTGTATATGTATATAT ACGTATATGTGTATATATACGTATATGTGTGTATATACGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG01109.hp2 HG02055.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0010 a0003c0011t0003g0333 a0003c0011t0003g0010 a0003c0011t0003g0333	2	309	0.0065	198	c.88- others(215): Show c.88-34206_88-34205insGTGTATATATACGTATATGTGTGTATAT GTGTATATATACGTATGTGTGTATATGTGTATATATACGTATATGTGTGT ATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGTATAT GTGTGTATATGTATATATACGTATATGTGTATATATACGTATATGTGTGT ATATACGTATATGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTCA others(191): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGG GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGT CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0277	1	200	0.0050	198	c.50 others(209): Show c.5060_*5061insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTC AGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGTTTA others(191): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG TTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0314 a0001c0002t0002g0314	1	294	0.0034	198	c.51 others(209): Show c.5186_*5187insAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGG TGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTCA others(191): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGG GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGT CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	193	0.0052	198	c.19 others(209): Show c.1999_*2000insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTC AGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGTTTA others(191): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG TTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0313 a0001c0002t0013g0313	1	288	0.0035	198	c.21 others(209): Show c.2125_*2126insAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGG TGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(191): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0002 a0008c0030t0002	a0008c0030t0002g0345 a0008c0030t0002g0345	1	259	0.0039	198	c.128 others(213): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(191): Show CACCCCCCACCGTGCTCCACCCCCCACCACAGTCCCCCACCCCCCCACCC CAGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCAC CCCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCCAACCCCCACCAC AGTCCCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCTCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	259	0.0039	198	c.128 others(213): Show c.1287+69_1287+70insCACCGTGCTCCACCCCCCACCACAGTCCCC CACCCCCCCACCCCAGTCCCCAAACCCCTACCACAGTCCCCCAACCCCAC CACAGTCCCCCACCCCCTACCACAGTCCCCCACCCCCTACCACAGTCCCC CAACCCCCACCACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCCATG ACAGTCCCCTCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(191): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG02922.hp1 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0243 a0003c0006t0001g0199 a0001c0001t0001g0243 a0003c0006t0001g0199	2	22	0.0909	198	c.510 others(217): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPS7A_chr12_6719046_6736865	6722714	A A	AAAAAAAA others(191): Show AAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCAGCTACTCAGGAGGCT GAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGAGGTTCAGTGGGTCGAG ACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAGTGAAACTCTGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02486.hp1 others(2): Show HG01192.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0026 a0001c0002t0003g0043 a0001c0002t0003g0016 a0001c0002t0003g0026 a0001c0002t0003g0043	5	456	0.0110	198	c.-15 others(209): Show c.-1509_-1508insAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTA CTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCA GCTACTCAGGAGGCTGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGAG GTTCAGTGGGTCGAGACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAG TGAAACTCTGGCTC	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1331		chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(191): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0330 a0001c0002t0002g0330	1	117	0.0085	198	c.927 others(213): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC CGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(191): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG03225.hp1 others(1): Show HG02723.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0068 a0001c0007t0006g0157 a0001c0007t0006g0274 others(1): Show a0001c0007t0006g0068 a0001c0007t0006g0157 a0001c0007t0006g0274 a0001c0007t0006g0285	4	120	0.0333	198	c.927 others(213): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC CGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587983	C C	CACCCGCG others(191): Show CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTT ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTTACCCGCGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	340	0.0029	198	c.928 others(213): Show c.928-688_928-687insGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGT GTTACCCGCGTGTTACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(191): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATTTCTAT ATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	156	0.0064	198	c.56 others(209): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATTTCTATATATATATATTTCTATATATATATATATTTCTATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(191): Show ATATATATATATATATATATATATATATATATATATTTCTATATATATAT ATATATATATATTTCTATATATATATATATTTCTATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	156	0.0064	198	c.56 others(209): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TTTCTATATATATATATATATATATATTTCTATATATATATATATTTCTA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CXorf51A_chrX_146809106_146819744	146812354	C C	CATATATG others(191): Show CATATATGTGTATATATGTATATACACACATATATATGTGTACACATATA TATATGTGTACATATATATATATATACATATATATACATATATATATGTA TACATATATATATGTGTACACATATATATGTGTATATACATATATACACA TGTGTATATATGTGTATATACATATATACACATGTGTATATATGTGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	110	0.0091	198	c.18 others(209): Show c.1852_*1853insATACACATATATACACATGTGTATATATGTATAT ACACATATATACACATGTGTATATATGTATATACACATATATATGTGTAC ACATATATATATGTATACATATATATATGTATATATATGTATATATATAT ATATGTACACATATATATATGTGTACACATATATATGTGTGTATATACAT ATATACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1751		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812354	C C	CATATATG others(191): Show CATATATGTGTATATATGTATATACACACATATATATGTGTACACATATA TATATGTGTACATATATATATATATACATATATATACATATATATATGTA TACATATATATATGTGTACACATATATATGTGTATATACATATATACACA TGTGTATATATGTGTATATACATATATACACATGTGTATATATGTGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	126	0.0079	198	c.20 others(209): Show c.2046_*2047insATATATGTGTATATATGTATATACACACATATAT ATGTGTACACATATATATATGTGTACATATATATATATATACATATATAT ACATATATATATGTATACATATATATATGTGTACACATATATATGTGTAT ATACATATATACACATGTGTATATATGTGTATATACATATATACACATGT GTATATATGTGTAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1944		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(191): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0115 a0002c0002t0115	a0002c0002t0115g0220 a0002c0002t0115g0220	1	218	0.0046	198	c.290 others(213): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATATATGTGTATATATATA TATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPK1_chr9_87492867_87713634	87652573	C C	CAGGTCCT others(191): Show CAGGTCCTGATTCTGTGTCCTCCCACCTGATACCAGGTCCTGATTCTGTG TCCATCCCCCCGATCCTGGGTCCTGATTCTGTGTCCTCTCACCTGATCCC GGGTCCTGATTCTGTGTTCTCTCACCTGATCCCAGGTCCTGATTCTGTGT CCTCCCACCTGATACCAGGTCCTGATTCTGTGTCCATGCCCCCGATCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0130	1	234	0.0043	198	c.182 others(215): Show c.1824+849_1824+850insAGGTCCTGATTCTGTGTCCTCCCACCTG ATACCAGGTCCTGATTCTGTGTCCATCCCCCCGATCCTGGGTCCTGATTC TGTGTCCTCTCACCTGATCCCGGGTCCTGATTCTGTGTTCTCTCACCTGA TCCCAGGTCCTGATTCTGTGTCCTCCCACCTGATACCAGGTCCTGATTCT GTGTCCATGCCCCCGATCCT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	17/25			chr9	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(191): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAAATATATTTATATAAATATATATTTAT AAAATATATTATATATAATATATATTATATAAATATATATTATATAAAAT ATATATTTATATAAAAATGTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19004.hp1 NA18944.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0024 a0001c0001t0009g0023 a0001c0001t0005g0024 a0001c0001t0009g0023	2	186	0.0108	198	c.539 others(215): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAAATATATT TATATAAATATATATTTATAAAATATATTATATATAATATATATTATATA AATATATATTATATAAAATATATATTTATATAAAAATGTATTATATTATA TATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35861691	A A	ACTCTTAC others(191): Show ACTCTTACTGTTCTTCCCTGCTTCTGCTGATTGCTCTTAGAAATGCAGAC TTCTGGCCAGGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGGGAGG CTCTTACTGTTCTTCCCTGCTTCTGCTGATTGCTCTTAGAAATGCAGACT TCTGGCCAGGCACAGTGGCTCACGCCTGAAATCCCAGCACTTTGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0192 a0001c0003t0007g0192	1	226	0.0044	198	c.941 others(215): Show c.941-7099_941-7098insCCTCCCAAAGTGCTGGGATTTCAGGCGT GAGCCACTGTGCCTGGCCAGAAGTCTGCATTTCTAAGAGCAATCAGCAGA AGCAGGGAAGAACAGTAAGAGCCTCCCAAAGTGCTGGGATTTCAGGCGTG AGCCACTGTGCCTGGCCAGAAGTCTGCATTTCTAAGAGCAATCAGCAGAA GCAGGGAAGAACAGTAAGAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958130	T T	TACTATAA others(191): Show TACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTA TAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACT ATAACCACCACCACCACTATAACCACCATCATCACCACCACTACCACTAC TGTAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	209	0.0048	198	c.724 others(217): Show c.724-10674_724-10673insGGTGGTGGTGGTAGTGGTGGTTATAG TGGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGGTG GTTATAGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTAT AGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAG TGATGGTGGTGATGGTTATAGT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211960	T T	TATTTACT others(191): Show TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	96	0.0104	198	c.212 others(219): Show c.2123-33810_2123-33809insTATCACAAAACATGAGAGTAAATA TCACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAA ACACGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGA GAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAA ATATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(191): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0134 a0001c0001t0014g0134	1	218	0.0046	198	c.101 others(217): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	323092	G G	GGGGGTGC others(191): Show GGGGGTGCGGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTC GGGGGTGCGGGGGTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCG GGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGG GGGTGCGGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0065 a0001c0017t0002g0065	1	88	0.0114	198	c.392 others(217): Show c.3924+3913_3924+3914insGGACTGACTGTTCTAACAGCGCCGGT CTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGT CTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTC TCTCGCTGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCT CTCGCTGGAGCCCCCGCACCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(191): Show CCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCTCCCCCC CCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGC CCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGC TGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	59	0.0169	198	c.395 others(215): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGG GGGGAGGCAGCCAGGGCCCGGGGGGGGAGGCAGCCAGGGTCCGGGGGGGG AGGCAGCCAGGGTCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522574	A A	ACCCAGCC others(191): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	313	0.0032	198	c.236 others(217): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522596	A A	ACCCAGCC others(191): Show ACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0002 a0002c0040t0002	a0002c0040t0002g0306 a0002c0040t0002g0306	1	308	0.0032	198	c.236 others(217): Show c.2363-1337_2363-1336insGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522596	A A	ACCCAGCC others(191): Show ACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0198 a0002c0011t0001g0198	1	308	0.0032	198	c.236 others(217): Show c.2363-1337_2363-1336insGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(191): Show GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0166	1	214	0.0047	198	c.236 others(217): Show c.2363-1304_2363-1303insGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522640	G G	GCCCAGCC others(191): Show GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	292	0.0034	198	c.236 others(217): Show c.2363-1292_2363-1291insACCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522684	G G	GCCCAGCC others(191): Show GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	253	0.0040	198	c.236 others(217): Show c.2363-1249_2363-1248insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522706	A A	ACCCAGCC others(191): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	334	0.0030	198	c.236 others(217): Show c.2363-1215_2363-1214insACCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	965740	T T	TCACATGG others(191): Show TCACATGGCTCCTGAGTCTGACCCCTGCGCTGCACACGGCACTGTTCACC ACACAGGGCTCCTGAGTCTGACCCCTGCGCTGCACACGGCACTGTTCACC ACACAGGGCTCCTGAGTCTGACCCCGCACTGCACACGGCACTGTTCACCT CACACGGCTCCTGAGCCCAACCCCCGCGTGCACACGGCACTGTTCACCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	36	0.0278	198	c.73+ others(215): Show c.73+57778_73+57779insTGGCTCCTGAGTCTGACCCCTGCGCTGC ACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGC ACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCGCACTGCA CACGGCACTGTTCACCTCACACGGCTCCTGAGCCCAACCCCCGCGTGCAC ACGGCACTGTTCACCACACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568257	G G	GTGCCACT others(191): Show GTGCCACTGTCCACTCAGCAGACACAAATCCGTCTTTGCCTGTGGCCTCC ATGCCACTGTCCACTCAGCAGACACAAATCCACTCTGCCCGTGGCCCCCA TGCCACTGTCCACTCAGCACACACAAATCCGTCTCTGCCTGTGGCCCCCA TGCCACTGTCCACTCAGTAGACACAAATCCACTCTGCCCATGGCCCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	38	0.0263	198	c.144 others(217): Show c.1442+2492_1442+2493insGTCTCTGCCTGTGGCCCCCATGCCAC TGTCCACTCAGTAGACACAAATCCACTCTGCCCATGGCCCCCATGCCACT GTCCACTCAGCAGACACAAATCCGTCTTTGCCTGTGGCCTCCATGCCACT GTCCACTCAGCAGACACAAATCCACTCTGCCCGTGGCCCCCATGCCACTG TCCACTCAGCACACACAAATCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(191): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0034 a0034	a0034c0035 a0034c0035	a0034c0035t0001 a0034c0035t0001	a0034c0035t0001g0079 a0034c0035t0001g0079	1	96	0.0104	198	c.199 others(217): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123911988	G G	GGGGGGGG others(191): Show GGGGGGGGGTCTGTGTTGGGGTGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTG TCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	167	0.0060	198	c.101 others(219): Show c.10135-1097_10135-1096insGTTGGGGTGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGGTC TGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCC CGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK1_chr10_126900428_127457516	126947244	A A	ATGATGGT others(191): Show ATGATGGTGGTGGTTGGTAGTACTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTACTACTGTTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	134	0.0075	198	c.47- others(215): Show c.47-23391_47-23390insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTACTACTGTTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTACTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947417	G G	GTGGTGGT others(191): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG02886.hp2 HG02922.hp1	a0001 a0008 a0001 a0008	a0001c0047 a0008c0057 a0001c0047 a0008c0057	a0001c0047t0001 a0008c0057t0002 a0001c0047t0001 a0008c0057t0002	a0001c0047t0001g0038 a0008c0057t0002g0126 a0001c0047t0001g0038 a0008c0057t0002g0126	2	127	0.0157	198	c.47- others(215): Show c.47-23255_47-23254insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947847	A A	ATGGTGGT others(191): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	113	0.0088	198	c.47- others(215): Show c.47-22757_47-22756insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948008	G G	GTGATGGT others(191): Show GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTGGTTGGTAGCATTACTGTTGTTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0098 a0001c0002t0008g0098	1	128	0.0078	198	c.47- others(215): Show c.47-22692_47-22691insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGCATTACTGT TGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948249	A A	ATGGTGGT others(191): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0136 a0002c0017t0002g0136	1	121	0.0083	198	c.47- others(215): Show c.47-22378_47-22377insTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948252	G G	GTGGTTGG others(191): Show GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0031 a0001c0009t0002g0031	1	124	0.0081	198	c.47- others(215): Show c.47-22446_47-22445insTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(191): Show TCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCAC TTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0021 a0021	a0021c0125 a0021c0125	a0021c0125t0002 a0021c0125t0002	a0021c0125t0002g0123 a0021c0125t0002g0123	1	196	0.0051	198	c.323 others(215): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(191): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02080.hp1 NA18522.hp2 others(2): Show HG01074.hp1 HG02080.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp2	a0003 a0029 a0053 others(1): Show a0003 a0029 a0053 a0054	a0003c0001 a0029c0136 a0053c0083 others(1): Show a0003c0001 a0029c0136 a0053c0083 a0054c0028	a0003c0001t0001 a0003c0001t0016 a0029c0136t0001 others(2): Show a0003c0001t0001 a0003c0001t0016 a0029c0136t0001 a0053c0083t0001 a0054c0028t0001	a0003c0001t0001g0158 a0003c0001t0016g0157 a0029c0136t0001g0155 others(2): Show a0003c0001t0001g0158 a0003c0001t0016g0157 a0029c0136t0001g0155 a0053c0083t0001g0228 a0054c0028t0001g0047	5	161	0.0311	198	c.323 others(215): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(191): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0003 a0002c0078t0003	a0002c0078t0003g0018 a0002c0078t0003g0018	1	157	0.0064	198	c.323 others(215): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCAC CATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400113	C C	CATCACCA others(191): Show CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCACG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG01993.hp2 others(1): Show HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0002c0020 a0001c0002 a0002c0008 a0002c0020	a0001c0002t0001 a0002c0008t0001 a0002c0020t0005 a0001c0002t0001 a0002c0008t0001 a0002c0020t0005	a0001c0002t0001g0090 a0002c0008t0001g0112 a0002c0008t0001g0113 others(1): Show a0001c0002t0001g0090 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0020t0005g0250	4	254	0.0157	198	c.323 others(215): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CATCACCACCACCTCCACGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400325	C C	CCATCACC others(191): Show CCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCA CCTCCTCCACCACCACCACCACCTCCACCACCACCAGCATCTTCACCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	246	0.0041	198	c.323 others(217): Show c.3234+1068_3234+1069insTCACCACCACCACCTCCACCATCACC ACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCA CCACCACCTCCACCATCACCACCTCCTCCACCACCACCACCACCTCCACC ACCACCAGCATCTTCACCATCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400336	T T	TCCACCAC others(191): Show TCCACCACCACCACCTCCACCACCTCCACCACCAGCACTTCCACCATCAC CACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCA TCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACC TTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0156 a0003c0004t0001g0156	1	130	0.0077	198	c.323 others(217): Show c.3234+1079_3234+1080insACCACCACCACCTCCACCACCTCCAC CACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGTCA CCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCC ACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACCTC CTCCACCATCACCACCATCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400381	A A	ACCACCAC others(191): Show ACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCA CCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0073 a0004c0073	a0004c0073t0001 a0004c0073t0001	a0004c0073t0001g0092 a0004c0073t0001g0092	1	221	0.0045	198	c.323 others(217): Show c.3234+1122_3234+1123insCCACCACCACCTCCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCAC CACCACCTCCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCTCCACCTCCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400952	A A	ACCACCAC others(191): Show ACCACCACCACCACCTCCTCCACCATCACCATCACCACCACCTCCACCAT CACCACCTCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCT CCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCCCCACT ACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02080.hp2 HG00438.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0106 a0001c0003t0001g0098 a0001c0003t0001g0106	2	188	0.0106	198	c.323 others(217): Show c.3234+1723_3234+1724insTCACCACCACCTCCACCATCACCACC TCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCTCCAC CATCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACA GCTCCTTCACCATCACCACAACATCCACCACCACCATCACCTCCACCACC ACCACCTCCTCCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar

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