Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHSY1_chr15_101170727_101257048	101202138	A A	AAGGATGG others(182): Show AAGGATGGAGGGCATTTCTGCAGGAGGGGCAGTGGGATCTCAGACACAGC AGAGGCTGCAGGGAAGGATGGAGGGCATTTCTGCAGGGGGGGCAGTGGGA TCTCAGACACAGCAGAGGCTGCAGGGGAGGATGGAGGGCATTTCTGCAGG AGGGGCAGTGGGATCTCAGACACAGCAGAGGCTGCAGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp1 others(5): Show HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00738.hp2 HG01109.hp1 HG01255.hp2 HG01358.hp2 NA20752.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0009 a0004c0007t0001 a0004c0007t0009	a0004c0007t0001g0090 a0004c0007t0001g0154 a0004c0007t0009g0294 others(5): Show a0004c0007t0001g0090 a0004c0007t0001g0154 a0004c0007t0009g0294 a0004c0007t0009g0295 a0004c0007t0009g0296 a0004c0007t0009g0297 a0004c0007t0009g0298 a0004c0007t0009g0299	8	407	0.0197	189	c.817 others(208): Show c.817-23159_817-23158insCCCCTGCAGCCTCTGCTGTGTCTGAG ATCCCACTGCCCCTCCTGCAGAAATGCCCTCCATCCTCCCCTGCAGCCTC TGCTGTGTCTGAGATCCCACTGCCCCCCCTGCAGAAATGCCCTCCATCCT TCCCTGCAGCCTCTGCTGTGTCTGAGATCCCACTGCCCCTCCTGCAGAAA TGCCCTCCATCCT		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CHSY1_chr15_101170727_101257048	101202176	C C	CTCAGACA others(182): Show CTCAGACACAGCAGAGGCTGCAGGGAAGGATGGAGGGCATTTCTGCAGGG GGGGCAGTGGGATCTCAGACACAGCAGAGGCTGCAGGGGAGGATGGAGGG CATTTCTGCAGGAGGGGCAGTGGGATCTCAGACACAGCAGAGGCTGCAGG GGAGGATGGAGGGCATTTCTGCAGGAGGGGCAGTGGGATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0015 a0003c0011t0015	a0003c0011t0015g0183 a0003c0011t0015g0183	1	419	0.0024	189	c.817 others(208): Show c.817-23197_817-23196insCATCCCACTGCCCCTCCTGCAGAAAT GCCCTCCATCCTCCCCTGCAGCCTCTGCTGTGTCTGAGATCCCACTGCCC CTCCTGCAGAAATGCCCTCCATCCTCCCCTGCAGCCTCTGCTGTGTCTGA GATCCCACTGCCCCCCCTGCAGAAATGCCCTCCATCCTTCCCTGCAGCCT CTGCTGTGTCTGA		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CNOT3_chr19_54132762_54160681	54133762	C C	CCTCTCTC others(182): Show CCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	195	0.0051	189	c.-42 others(200): Show c.-4282_-4281insCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCT		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3999		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(182): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0179 a0002c0043t0001g0179	1	171	0.0058	189	c.85- others(206): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(182): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02723.hp2 HG01081.hp1 HG02723.hp2	a0002 a0004 a0002 a0004	a0002c0015 a0004c0035 a0002c0015 a0004c0035	a0002c0015t0001 a0004c0035t0001 a0002c0015t0001 a0004c0035t0001	a0002c0015t0001g0239 a0004c0035t0001g0103 a0002c0015t0001g0239 a0004c0035t0001g0103	2	181	0.0110	189	c.85- others(206): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCTTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970230	G G	GGGTGAGT others(182): Show GGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGGGTGAATGGGGTCTGTG GGTGAGTGGGGTCTGTGGGGTGAATGGGGTCTGTGGGTGAGTGGGGTCTG TGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGT CTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGTGCTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG02970.hp1 HG03195.hp2	a0027 a0035 a0027 a0035	a0027c0060 a0035c0135 a0027c0060 a0035c0135	a0027c0060t0015 a0035c0135t0004 a0027c0060t0015 a0035c0135t0004	a0027c0060t0015g0206 a0035c0135t0004g0289 a0027c0060t0015g0206 a0035c0135t0004g0289	2	389	0.0051	189	c.393 others(206): Show c.3937-309_3937-308insACAGCACCCACTCACCCCACAGACCCCA CTCACCCCACAGACCCCACTCACCCCACAGACCCCACTCACCCACAGACC CCACTCACCCCACAGACCCCACTCACCCACAGACCCCATTCACCCCACAG ACCCCACTCACCCACAGACCCCATTCACCCAGACCCCACTCACCCACAGA CCCCACTCACC		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45987864	G G	GCTCCAGA others(182): Show GCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGAG TCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCA GATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	122	0.0082	189	c.804 others(204): Show c.804+210_804+211insCTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAG GGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA CGTCGGGGC		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34						chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988185	T T	TCGGGCTC others(182): Show TCGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGATGGGGACGGCGGGGC TCCAGATGGAGGGGACGGCGGGGGTCCCAGATGGAGGGGACGGCGGGGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	69	0.0145	189	c.804 others(204): Show c.804+535_804+536insCTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA TGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCCAGATGGA GGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGGCGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(182): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCCGCCCCCCGCCCCCGCCCCCGCCCC CCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0309 a0002c0004t0002g0309	1	117	0.0085	189	c.927 others(204): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCCGCCCCCCGCCCCCG CCCCCGCCCCCCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC CCCCGCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(182): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCCGTCCACCCATC CATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0282 a0001c0002t0003g0282	1	226	0.0044	189	c.13 others(200): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCAT CCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					691		chr16	TogoVar
CRYL1_chr13_20398669_20530857	20519229	G G	GATGGGAG others(182): Show GATGGGAGGGGGGTGTAGTCAGGAAAGTGAAGGGAGCTGCCATCTGCATC AAACGCTGCTGATGAACACTTGAACTGAGGATTGACCATTGGGTTTTGCA AGATGAATGGCGGTGGGGACCATGACAAGAGCAGATTTGTGGGATTGATG AAAGACTGCTCAGGGTAGGTTTAAGAGAAAATGAGCCTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18957.hp2 NA18977.hp1 others(4): Show HG03942.hp1 NA18957.hp2 NA18977.hp1 NA18981.hp2 NA19002.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002	a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0042 others(4): Show a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0042 a0001c0003t0002g0045 a0001c0004t0001g0032 a0001c0004t0001g0044 a0001c0004t0002g0043	7	248	0.0282	189	c.41+ others(204): Show c.41+6336_41+6524dupAGAGGCTCATTTTCTCTTAAACCTACCCTG AGCAGTCTTTCATCAATCCCACAAATCTGCTCTTGTCATGGTCCCCACCG CCATTCATCTTGCAAAACCCAATGGTCAATCCTCAGTTCAAGTGTTCATC AGCAGCGTTTGATGCAGATGGCAGCTCCCTTCACTTTCCTGACTACACCC CCCTCCCAT		CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	1/7						chr13	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(182): Show TTCTTTCTTTCTTTCTTTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	181	0.0055	189	c.918 others(204): Show c.918+556_918+557insCTTTCTTTCTTTCTTTTTCTCTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTT TCTTTTTCTTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTT TCTTTTCCT		CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(182): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0108 a0001c0002t0039g0108	1	282	0.0035	189	c.-11 others(200): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTT		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1138		chr7	TogoVar
DDR2_chr1_162627464_162792405	162727215	A A	AACATATA others(182): Show AACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAA TATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTG TAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATAT TTTGTAAATATAGACATATATTTATATTTTGTAAATATAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	298	0.0034	189	c.82+ others(204): Show c.82+8096_82+8097insGACATATATTTATATTTTGTAAATATAGAC ATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATAT AGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAA ATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTT GTAAATATA		DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(182): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	26	0.0385	189	c.27 others(200): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGC GCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCG GCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397203	T T	TGCGGGGG others(182): Show TGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp2 HG01934.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0059 a0001c0001t0002g0069	2	52	0.0385	189	c.348 others(206): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397203	T T	TGCGGGGG others(182): Show TGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19004.hp2 NA19009.hp2 NA18952.hp1 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068	3	53	0.0566	189	c.348 others(206): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACC AGGGTGGCTGG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	759140	T T	TTTCCCAT others(182): Show TTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCA CAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATACCC CCCACAGCCTTCCTGTTATCAATACCCGCAACAGCCTTCCCGTTATCAAT ACCCCCCACAGCCTTCCCGTTATCAATACCCCCCACAACC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	2	0.5000	189	c.18+ others(206): Show c.18+21339_18+21340insACCTTCCCATTATCAATACCCCCCACAG CCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCC ACAGCCTTCCTGTTATCAATACCCGCAACAGCCTTCCCGTTATCAATACC CCCCACAGCCTTCCCGTTATCAATACCCCCCACAACCTTCCCATTATCAA TACCCCCCACA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	759140	T T	TTTCCCAT others(182): Show TTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGA CAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCC CCCACAACCTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAAT ACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0030 a0003c0005t0002g0030	1	2	0.5000	189	c.18+ others(206): Show c.18+21339_18+21340insACCTTCCCATTATCAATACCCCCGACAG CCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCC ACAACCTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATACC CCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAA TACCCCCCACA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848684	C C	CGTGTTCC others(182): Show CGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGC GGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTC GTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAG GGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	189	c.19- others(206): Show c.19-59105_19-59104insGTCGTGCGGTGCGTGTTCCAGTGTAGGG TCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGTGTGTTCCAGTGT AGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCA GTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGT TCCAGTGTAGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014599	C C	CTGTGTGT others(182): Show CTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGTGACCAGGACAGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTA TGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	37	0.0270	189	c.73+ others(208): Show c.73+106654_73+106655insCCTCCACTGTGTGTGTGACCAGGACA GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACG CCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1074114	T T	TGTCACAG others(182): Show TGTCACAGAAGGGTATGCAGCAGACTGAGGCTGAACTCACCCAGGTACAT ATTCAGGAGTCACTGTAACAGAAGGGTTTGCAGCAGACTGAAGCTGAACT CACCCAGGTACATATTCAGGATTCACTGTAACAGAAGGGTTTGCAGCAGA CTGAGGCTGAACTCACCCAGGTACATATTCAGGATTCACC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp2 others(5): Show HG00639.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG02074.hp2 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 others(5): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0003t0014 a0001c0010t0025 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0009g0039 a0001c0002t0010g0008 others(5): Show a0001c0002t0001g0015 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0014g0020 a0001c0010t0025g0012 a0003c0005t0004g0037 a0004c0008t0016g0028	8	40	0.2000	189	c.73+ others(208): Show c.73+166161_73+166162insATGCAGCAGACTGAGGCTGAACTCAC CCAGGTACATATTCAGGAGTCACTGTAACAGAAGGGTTTGCAGCAGACTG AAGCTGAACTCACCCAGGTACATATTCAGGATTCACTGTAACAGAAGGGT TTGCAGCAGACTGAGGCTGAACTCACCCAGGTACATATTCAGGATTCACC GTCACAGAAGGGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1074138	C C	CTGAGGCT others(182): Show CTGAGGCTGAACTCACCCAGGTACATATTCAGGAGTCACTGTAACAGAAG GGTTTGCAGCAGACTGAAGCTGAACTCACCCAGGTACATATTCAGGATTC ACTGTAACAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTAC ATATTCAGGATTCACCGTCACAGAAGGGTTTGCAGCAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	32	0.0625	189	c.73+ others(208): Show c.73+166336_73+166337insCGTCACAGAAGGGTTTGCAGCAGAGT GAGGCTGAACTCACCCAGGTACATATTCAGGAGTCACTGTAACAGAAGGG TTTGCAGCAGACTGAAGCTGAACTCACCCAGGTACATATTCAGGATTCAC TGTAACAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTACAT ATTCAGGATTCAC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1074243	A A	AACAGAAG others(182): Show AACAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTACATATT CAGGATTCACCGTCACAGAAGGGTTTGCAGCAGAGTGAGGCTGAACTCAC CCAGGTACATATTCAGGAGTCACTGTAACAGAAGGGTTTGCAGCAGACTG AAGCTGAACTCACCCAGGTACATATTCAGGATTCACTGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 HG02895.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0026 a0001c0003t0001g0027	2	40	0.0500	189	c.73+ others(208): Show c.73+166336_73+166337insCGTCACAGAAGGGTTTGCAGCAGAGT GAGGCTGAACTCACCCAGGTACATATTCAGGAGTCACTGTAACAGAAGGG TTTGCAGCAGACTGAAGCTGAACTCACCCAGGTACATATTCAGGATTCAC TGTCACAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTACAT ATTCAGGATTCAC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1074245	C C	CAGAAGGG others(182): Show CAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTACATATTCA GGATTCACCGTCACAGAAGGGTTTGCAGCAGAGTGAGGCTGAACTCACCC AGGTACATATTCAGGAGTCACTGTAACAGAAGGGTTTGCAGCAGACTGAA GCTGAACTCACCCAGGTACATATTCAGGATTCACTGTAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0011 a0002c0004t0026 a0002c0001t0011 a0002c0004t0026	a0002c0001t0011g0002 a0002c0004t0026g0016 a0002c0001t0011g0002 a0002c0004t0026g0016	2	40	0.0500	189	c.73+ others(208): Show c.73+166336_73+166337insCGTCACAGAAGGGTTTGCAGCAGAGT GAGGCTGAACTCACCCAGGTACATATTCAGGAGTCACTGTAACAGAAGGG TTTGCAGCAGACTGAAGCTGAACTCACCCAGGTACATATTCAGGATTCAC TGTAATAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTACAT ATTCAGGATTCAC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344128	G G	GTGGGTCC others(182): Show GTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCC TGTCGTGAGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTCGGG GCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCCGTGTACT GTGGGCCCCGTCGTGGGTCCGTGTACTTGGGGCCCTGTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02071.hp2 HG03710.hp2 HG01496.hp1 HG02071.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0004 a0001c0002 a0001c0012 a0002c0004	a0001c0002t0010 a0001c0012t0004 a0002c0004t0003 a0001c0002t0010 a0001c0012t0004 a0002c0004t0003	a0001c0002t0010g0008 a0001c0012t0004g0036 a0002c0004t0003g0009 a0001c0002t0010g0008 a0001c0012t0004g0036 a0002c0004t0003g0009	3	32	0.0938	189	c.106 others(208): Show c.106+85273_106+85274insAAGTCCGTGTACTGGGTGCCCTGTCG TGAGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTCGGGGCCCT GTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCCGTGTACTGTGGG CCCCGTCGTGGGTCCGTGTACTTGGGGCCCTGTCCTGGGTCCGTGTACTC GGGGCCCTGTCGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344128	G G	GTGGGTCC others(182): Show GTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCC TGTCGTGAGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTCGGG GCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCCGTGTACT GTGGGCCCTGTCGTGGGTCCGTGTACTTGGGGCCCTGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 NA20300.hp2 HG00639.hp1 HG01361.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 a0001c0002t0001 a0001c0002t0006 a0001c0002t0023	a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0023g0005	3	32	0.0938	189	c.106 others(208): Show c.106+85273_106+85274insAAGTCCGTGTACTGGGTGCCCTGTCG TGAGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTCGGGGCCCT GTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCCGTGTACTGTGGG CCCTGTCGTGGGTCCGTGTACTTGGGGCCCTGTCCTGGGTCCGTGTACTC GGGGCCCTGTCGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344146	G G	GGCCCTGT others(182): Show GGCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCCGTGTAC TGTGGGCCCTGTCGTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGT GTACTGGGTGCCCTGTCGTGAGTCCGTGTACTGTGGGCCCTGTCGTGGGT CCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0022 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0022 a0001c0002t0009g0039 a0002c0001t0020g0024	3	40	0.0750	189	c.106 others(208): Show c.106+85273_106+85274insAAGTCCGTGTACTGGGTGCCCTGTCG TGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTCGGGGCCCT GTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGAGTCCGTGTACTGTGGG CCCTGTCGTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTG GGTGCCCTGTCGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157411220	T T	TTCCCTGC others(182): Show TTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTG AGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGG GAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAC GGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp2 HG03654.hp1 others(5): Show HG00423.hp1 HG02129.hp2 HG03654.hp1 HG03834.hp1 NA18959.hp1 NA18959.hp2 NA18980.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0266 a0001c0001t0004g0224 a0001c0001t0004g0308 others(5): Show a0001c0001t0002g0266 a0001c0001t0004g0224 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0347 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0016g0091	8	97	0.0825	189	c.898 others(206): Show c.898+1245_898+1246insGCTCCCCACGGTTCCCTGCACTGAGCGG GGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGC TCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTC CCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAGGATCCCTGCACTGAGCG GGGTGGGGGAG		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK1_chr10_126900428_127457516	127362913	A A	ACACACAC others(182): Show ACACACACACACATACACATCCCCACACACACATACACATGCACGTCCCC CCACACACATACACATGCACATCCCCACACACACACACACACACACACAC ACATGCGCATCCCCACACACACACACATACACATACACATCCCCCCCACA CACACGCACATCCCCACACACACGTACACATGCACATCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0125 a0004c0013t0004g0125	1	134	0.0075	189	c.343 others(206): Show c.3432+707_3432+708insCACACATACACATCCCCACACACACATA CACATGCACGTCCCCCCACACACATACACATGCACATCCCCACACACACA CACACACACACACACACATGCGCATCCCCACACACACACACATACACATA CACATCCCCCCCACACACACGCACATCCCCACACACACGTACACATGCAC ATCCCCACACA		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(182): Show CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCTCCTTCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG01243.hp1 others(4): Show HG00609.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG02109.hp1 HG02148.hp1 NA21309.hp1	a0001 a0002 a0015 others(2): Show a0001 a0002 a0015 a0030 a0032	a0001c0002 a0001c0003 a0001c0048 others(4): Show a0001c0002 a0001c0003 a0001c0048 a0002c0008 a0015c0064 a0030c0089 a0032c0116	a0001c0002t0001 a0001c0003t0001 a0001c0048t0013 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0048t0013 a0002c0008t0001 a0015c0064t0001 a0030c0089t0003 a0032c0116t0002	a0001c0002t0001g0253 a0001c0003t0001g0044 a0001c0048t0013g0219 others(4): Show a0001c0002t0001g0253 a0001c0003t0001g0044 a0001c0048t0013g0219 a0002c0008t0001g0114 a0015c0064t0001g0165 a0030c0089t0003g0003 a0032c0116t0002g0233	7	163	0.0429	189	c.323 others(206): Show c.3234+845_3234+846insTCCACCACCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCTCCTTCACCATCACCACCTC CTTCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(182): Show TCACCACCACCTCCACCATCACCACCACCTCCACTATCACCATCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACTTCCACCACCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCATCATCACCACCT CCACTATCACCATCACCATCACCATCACCACCATCACCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0043 a0043	a0043c0088 a0043c0088	a0043c0088t0001 a0043c0088t0001	a0043c0088t0001g0083 a0043c0088t0001g0083	1	204	0.0049	189	c.323 others(208): Show c.3234+1128_3234+1129insCCACCTCCACCATCACCACCACCTCC ACTATCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACTTCCACCACCACCACCTCCTTCACCATCACCATCACCACCACCT CCACCATCATCACCACCTCCACTATCACCATCACCATCACCATCACCACC ATCACCTCCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK5_chr20_54470593_54656169	54645249	T T	TCGCTCTG others(182): Show TCGCTCTGAACCCTCAGTCCTCCATGCCCGCTCTGAACCCTCAGTCCTCC ATGCCCGCTCTGAACCCTCAGTCCTCCATGCCCGCTCTGAACCCTCAGTC CTCCATGCCCGCTCTGAACCCTCAGTCCTCCATGCCCGCTCTGAACCCTC AGTCCTCCATGCCCGCTCTGAACCCTCAGTCCTCCATGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02818.hp2 others(7): Show HG02109.hp1 HG02647.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015	a0001c0001t0001g0099 a0001c0001t0013g0075 a0001c0001t0013g0104 others(7): Show a0001c0001t0001g0099 a0001c0001t0013g0075 a0001c0001t0013g0104 a0001c0001t0019g0057 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0004g0007 a0001c0002t0013g0072 a0001c0002t0015g0109 a0001c0002t0015g0126	10	51	0.1961	189	c.856 others(206): Show c.856+1685_856+1873dupCAGTCCTCCATGCCCGCTCTGAACCCTC AGTCCTCCATGCCCGCTCTGAACCCTCAGTCCTCCATGCCCGCTCTGAAC CCTCAGTCCTCCATGCCCGCTCTGAACCCTCAGTCCTCCATGCCCGCTCT GAACCCTCAGTCCTCCATGCCCGCTCTGAACCCTCAGTCCTCCATGCCCG CTCTGAACCCT		DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
DSPP_chr4_87603529_87621873	87615782	C C	CGATAGCA others(182): Show CGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATA GCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGT GACAGCAGCGACAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAG CAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03942.hp2 NA20905.hp1 HG03942.hp2 NA20905.hp1	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0002 a0022c0027t0002	a0022c0027t0002g0001 a0022c0027t0002g0001	2	437	0.0046	189	c.329 others(198): Show c.3290_3291insTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAG CGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACA GCAGCGACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT GATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAG CAG	p.Ser others(204): Show p.Ser1097_Asp1098insAspSerSerAspSerSerAspSerSerAsp SerSerAspSerSerAspSerSerAspSerSerAsnSerSerAspSerSe rAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspS erSerAspSerSerGluSerSerAspSerSerAspSerSerAsnSerSer AspSerSer	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3411/4331	3291/3906	1097/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DUSP8_chr11_1549051_1577271	1550665	T T	TACCCATT others(182): Show TACCCATTCATCCATTTGCTCATCCATCCATCCATCCACCCACCCATCCA CCCCACTCATCCCTCTACCCATTCATCCCATCTGCCCACGTATCCATCCA TCCACCCACCCACCCCACTCATCCCTCTACCCATTCATCCATCTGCCCAT CCATCCATCCATCCATCCACCCACCCCACTCATACCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	189	c.58 others(200): Show c.5852_*5853insGGAGGGTATGAGTGGGGTGGGTGGATGGATGGAT GGATGGATGGGCAGATGGATGAATGGGTAGAGGGATGAGTGGGGTGGGTG GGTGGATGGATGGATACGTGGGCAGATGGGATGAATGGGTAGAGGGATGA GTGGGGTGGATGGGTGGGTGGATGGATGGATGGATGAGCAAATGGATGAA TGGGT		DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding					3385		chr11	TogoVar
DYM_chr18_49031387_49465645	49440578	T T	TTATATAT others(182): Show TTATATATGACTATATATTATATATATAATATATGACTATATATTATATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAACATATGACTATATATTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG02723.hp1 HG01109.hp2 HG01256.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0031 a0001c0001t0005 a0001c0001t0029 a0001c0001t0031	a0001c0001t0005g0250 a0001c0001t0029g0266 a0001c0001t0031g0114 a0001c0001t0005g0250 a0001c0001t0029g0266 a0001c0001t0031g0114	3	261	0.0115	189	c.-53 others(208): Show c.-53-10132_-53-10131insTATATAATATATAGTCATATGTTATA TATATATAATATATAGTCATATGTTATATATATATAATATATAGTCATAT GTTATATATATATAATATATAGTCATATGTTATATATATATAATATATAG TCATATGTTATATATATATAATATATAGTCATATATTATATATATAATAT ATAGTCATATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440608	T T	TTATATAT others(182): Show TTATATATGACTATATATTATATATATAATATATGACTATATATTATATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAACATATGACTATATATTATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	279	0.0036	189	c.-53 others(208): Show c.-53-10162_-53-10161insTATATAATATATAGTCATATGTTATA TATATATAATATATAGTCATATGTTATATATATATAATATATAGTCATAT GTTATATATATATAATATATAGTCATATGTTATATATATATAATATATAG TCATATGTTATATATATATAATATATAGTCATATATTATATATATAATAT ATAGTCATATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440616	T T	TATGTGAC others(182): Show TATGTGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	250	0.0040	189	c.-53 others(208): Show c.-53-10170_-53-10169insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATATTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCACAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(182): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ACATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03490.hp1 HG03492.hp2 HG01106.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0101 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0101	3	233	0.0129	189	c.-53 others(208): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATGTTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCATAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(182): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19010.hp2 NA18946.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0074 a0001c0001t0003g0075	2	232	0.0086	189	c.-53 others(208): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATATTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCATAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATGTGAC others(182): Show TATGTGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	231	0.0043	189	c.-53 others(208): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATATTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCACAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGACGACGCCGAGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18906.hp1 HG01257.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0003 a0001c0001t0001 a0001c0020t0003	a0001c0001t0001g0132 a0001c0020t0003g0149 a0001c0001t0001g0132 a0001c0020t0003g0149	2	75	0.0267	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGACGACG CCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	74	0.0135	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	74	0.0135	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGGGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGACGACGCCGAGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	74	0.0135	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGACGACG CCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG02165.hp1 others(2): Show HG00099.hp1 HG01981.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0137 a0006c0012t0001g0160	5	78	0.0641	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03491.hp2 HG03492.hp2 others(3): Show HG01081.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 NA18943.hp2 NA18947.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0009c0021t0001 a0001c0001t0001 a0009c0021t0001	a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0099 a0009c0021t0001g0093	6	79	0.0759	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(182): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01516.hp2 others(3): Show HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01934.hp2 HG02129.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0138	6	79	0.0759	189	c.227 others(208): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819390	A A	AGGGGCGC others(182): Show AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGT AGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATT GAGGGGCGCCATGTACCGAGACCGTAGAGAGGCTGAGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0169 a0001c0004t0001g0169	1	149	0.0067	189	c.354 others(208): Show c.3540+1298_3540+1299insGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCA TGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACC GTAGAGAGGCTGAGGGGGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCG ACTGAGGGGCGCC		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(182): Show CCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	234	0.0043	189	c.215 others(206): Show c.2155-366_2155-365insAGCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA AGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAG CACTGCTGGGA		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results