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
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(812): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGA GGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0112 a0002c0010t0001g0112	1	34	0.0294	819	c.299 others(834): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCAT CCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCC TCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTG CATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGC CCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(812): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	261	0.0038	819	c.306 others(838): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(812): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCT CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0221 a0002c0002t0005g0221	1	261	0.0038	819	c.306 others(838): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP3_chr16_420649_528011	458462	C C	CCACAGGG others(812): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTAGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	285	0.0035	819	c.715 others(836): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTAGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGC CTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(812): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTAGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0057 a0001c0001t0056g0057	1	280	0.0036	819	c.715 others(836): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCTCACAGGGCCTAGGGGGCCTTCCTCGGGTTC ACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATT CACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(812): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAACCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGAG TTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCAC GGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCG AGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATATT TTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02015.hp1 others(3): Show HG00423.hp1 HG00544.hp2 HG02015.hp1 HG02129.hp1 HG02523.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170	6	159	0.0377	819	c.137 others(836): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCGTC TCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTC ACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAGG CGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC CCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGTTTGAGCCACCACACC CGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTACT ATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAGA CTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCGC AGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGGA TCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(812): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGAG TTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCAC GGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCG AGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATATT TTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18906.hp1 HG01167.hp1 HG01169.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0008g0186 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0008g0186	3	156	0.0192	819	c.137 others(836): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCGTC TCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTC ACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAGG CGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC CCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACACC CGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTACT ATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAGA CTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCGC AGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGGA TCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
ROBO2_chr3_77035099_77654964	77323000	T T	TTATATTA others(812): Show TTATATTATATTATGGATAATATAATATATTATATTATGGATAATCTAAT ATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAGTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATAATATATTATATTATGGATAATATAATA TATTATATAATATATTATATTATGGATAATATAATATATTATATAATATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATAATATATTATA TTATGGATAATATAATATAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	136	0.0074	819	c.389 others(840): Show c.389-154377_389-154376insGGATAATCTAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATTATATTATGGATAATATAATATATTATATTAT ATTATGGATAATATAATATATTATATTATATTATGGATAATATAATATAT TATATTATATTATGGATAATATAATATAATATATTATATTATGGATAATA TAATATAATATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	356532	T T	CCACAGGC others(812): Show CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19088.hp2 HG00408.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0079 a0001c0001t0021g0077 a0001c0001t0001g0079 a0001c0001t0021g0077	2	85	0.0235	819	c.-40 others(830): Show c.-4033_-4032insAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3725		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178012	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	270	0.0037	819	c.-78 others(828): Show c.-781_-780insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		756		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	258	0.0039	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19075.hp1 NA18954.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	259	0.0077	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	258	0.0039	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	258	0.0039	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(812): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp1 HG02055.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	151	0.0199	819	c.-66 others(828): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		639		chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(812): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATATTCCATATATATATATATTCCATATATATATAT ATATTCCATATATATATATATATTCCATATATATATATATTCCATATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	230	0.0043	819	c.115 others(836): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATATG GAATATATATATATATGGAATATATATATATATATGGAATATATATATAT ATATGGAATATATATATATATGGAATATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(812): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATATTCCATATATATATATATATTCCATATATATATATATTCCATA TATATATATATATTCCATATATATATATATTCCATATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	230	0.0043	819	c.115 others(836): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATATGGAAT ATATATATATATGGAATATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(812): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGG TCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCC GCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0169 a0004c0006t0002g0169	1	105	0.0095	819	c.284 others(838): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(812): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTG CCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0171 a0004c0006t0002g0171	1	105	0.0095	819	c.284 others(838): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERINC2_chr1_31408213_31439678	31432173	A A	ATAGGGTG others(812): Show ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATA GGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	369	0.0027	819	c.101 others(836): Show c.1014-777_1014-776insACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGAC AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTG GATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(812): Show TATGTTTTATAAGTGTATATATACACATAAAATATATATACATATGTTTT ATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGTGT ATATATACACATAAAATATATATACATATGTTTTATATGTGTATATATAC ACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATAT AAAATATATATACATATGTTTTATATGTATATACACATATAAAATATATA TACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATA TGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATACGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	246	0.0041	819	c.626 others(836): Show c.626+5434_626+5435insAGTGTATATATACACATAAAATATATAT ACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACAT AGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATA TATATACATACGTTTTATATGTATATATATACATAGAAAATATATATACA TACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(812): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAACATATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATACGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	246	0.0041	819	c.626 others(836): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAACATAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACAT AGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATA TATATACATACGTTTTATATGTATATATATACATAGAAAATATATATACA TACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TGTTTTAT others(812): Show TGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTTTT ATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGTGT ATATATACACATAAAATATATATACATATGTTTTATATGTGTATATATAC ACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATAT AAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAATATATATACATA TGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0015 a0001c0004t0001g0015	2	247	0.0081	819	c.626 others(836): Show c.626+5424_626+5425insGTTTTATAAGTGTATATATACACATATA AAATATATATACATATGTTTTATAAGTGTATATATACACATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATATGTTTTATATGTATATATATAC ATAGAAAATATATATACATACGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATACATAGAAAATATATATAC	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6			chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852485	C C	CCCCCACC others(812): Show CCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCC CCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCAT GGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTC CATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCC CACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCCT GGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTC CATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCC CACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCC ATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCC CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02886.hp2 HG02257.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241	3	275	0.0109	819	c.646 others(836): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCTCTCAC CCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCC CATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAC CCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCC CCTGGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATC TTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(812): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGT GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGG GTGGAGTTGCCTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	366	0.0027	819	c.65 others(830): Show c.6506_*6507insCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCC CCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCAC CCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCC CCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(812): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0005 a0001c0001t0001g0031	2	81	0.0247	819	c.64 others(830): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TERT_chr5_1248167_1300068	1273459	G G	GCCATCCA others(812): Show GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCTGTGACCGACCGCCATCCACAGTCACCACATCAG ACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCTGTGACCGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	372	0.0027	819	c.228 others(838): Show c.2287-1180_2287-1179insTGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GGTCACAGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(812): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0016	1	188	0.0053	819	c.227 others(838): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(812): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0040 a0004c0006t0007g0040	1	188	0.0053	819	c.227 others(838): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(812): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	82	0.0122	819	c.-25 others(838): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(812): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCTCCT CTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCTCT CCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCC TCGCCCTTCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCT CCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCG TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CTCCCTTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTACCC CTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCT CTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCTTCC CCCCCTCTGCCCTCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCTATCCCCTCTCCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	82	0.0122	819	c.-25 others(838): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTC CTCTCCTCCCCTCTCCTCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCC CTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCTCTTCCCTCCCCTCTC CCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCTTTCCCTCCCCTCCCCTCCCCC TCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTAC CCCTCCCCTTACCCTTCCCTTCCCCCCCTCTGCCCTCCCTATCCCCTCCT CTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(812): Show CTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	393	0.0025	819	c.49 others(830): Show c.4971_*4972insCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCT CCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCC CCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(812): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACA CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCA CACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	93	0.0108	819	c.225 others(838): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917308	G G	GCTGTGGG others(812): Show GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGC TGTGGGACGGGGGTCGGGTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0209 a0001c0010t0002g0209	1	138	0.0072	819	c.218 others(836): Show c.2183-103_2183-102insCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCG GGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(812): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC TCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCT CCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA20129.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0030 a0001c0005t0015 a0001c0005t0030	a0001c0005t0015g0154 a0001c0005t0030g0153 a0001c0005t0015g0154 a0001c0005t0030g0153	2	3	0.6667	819	c.53 others(830): Show c.5324_*5325insAGGATGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGG GAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VCX2_chrX_8164944_8176267	8169170	T T	TCCTCCCT others(812): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCC CCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACCACCGCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACCACCGCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC TCACACACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	102	0.0098	819	c.86 others(828): Show c.861_*862insGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		773		chrX	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CGGACCCT others(813): Show CGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGG TAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGC AGGGGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGC ATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACG CAGGGGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAG GATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCC AGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGT CGGAGCATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTG AATCCAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATG GATGTCGGAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACT GAATCCAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACAT GGATGTCGGAGCATCTAGGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0337 a0001c0002t0091g0337	1	65	0.0154	820	c.61+ others(837): Show c.61+15411_61+15412insCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCA TGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCA GTGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGAC ATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGG ATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGA CATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTG GATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCG ACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCT GGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCC GACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTC TGGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGAT GCTCCGACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCT GCGTCTGGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(813): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATATA ATATATATTCTCATATAATATATTATATATTCTCATATAATATATTATAT ATGCTCATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATAATATATTATATATGCTCATATAT AATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAA TATATTATGTATGCTCATATATAATATATTATGTATGAGCATATATAATA TATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG02135.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	2	11	0.1818	820	c.10 others(833): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATATTATATATGAGAATATATAATATATATGAGAATATATATAATA TGTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAAT GAGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATAT ATATAATATATGAGAATATATATAATATATGAGTATATATTATATATATG AGAATATATATTATATATGAGAATATATATATTATATATATGAGAATATA TAATATATATATATGAGAATATATATTATATATATGAGTATATATAATAT ATATGAGAATATATATTATATGTATATAATATATATAATATATAATATAT AATATATAATATATAATATATACATATATACATATAATATATAAACATAT AATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(813): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03130.hp1 others(1): Show HG02572.hp2 HG02922.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0018 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0007t0003 a0001c0008t0008	a0001c0001t0001g0142 a0001c0001t0018g0099 a0001c0007t0003g0128 others(1): Show a0001c0001t0001g0142 a0001c0001t0018g0099 a0001c0007t0003g0128 a0001c0008t0008g0152	4	171	0.0234	820	c.47- others(837): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(813): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGG AAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGG GGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	8	0.1250	820	c.-70 others(829): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGT GGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GGTGATGA others(813): Show GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGAGATGGTTGTATGATGGTGATGATGGTGACGGTGATGATGTGATGGTG ATGATGGTGATGTTGGTGAGGTGATGATGGTGATGGTGATGATGGTGATG ATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGTTGGTGATGGTGATGATGTGATGGT GATGATGATGGTGATGGGTGATGATGGTGATGGTGATGATGGTGATGGTG GTGATGATGATGGTGATGTGATTGGTAATGGTGATGATGGTGATGGTGTT GATGATGTGGTGGTGATGGTGATGCTGATGATGGTGATGTGGTGATGGTG ATGATAGTGATGATGTGTGATGGTGATTGGTGATGATGGTGATGATATTG ATGGTGATGATATTGTTGGTGATGATGGTGATGGAGATGATGTGATGGTG ATGATGGTGATGTTATGATGGTGATGGTGATGATGGTTGATGATGGTGAT GATGGTGATGTTGGTGATTGGTGATGATGTGATGGTGATGATAGTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGTGGGTGATGATAGTGATGATGGTGATGATGGT GATTGTGATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGGGTGATGGAGATGTTGGTGATGATGGTGAT GGTGGTGATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	326	0.0031	820	c.963 others(837): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCCACCATCACCATCATCACCATCACCAT CATCACCATCACCGTCATCATCACCATCACCATCATCACAATCACCATCA TCACCATCATCACTATCATCACCCACATCACCATCACCATCATCACCATC ATCACCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACATCATCACCAATCACCAACATCACCATCATCACCA TCATCAACCATCATCACCATCACCATCATAACATCACCATCATCACCATC ACATCATCTCCATCACCATCATCACCAACAATATCATCACCATCAATATC ATCACCATCATCACCAATCACCATCACACATCATCACTATCATCACCATC ACCACATCACCATCATCAGCATCACCATCACCACCACATCATCAACACCA TCACCATCATCACCATTACCAATCACATCACCATCATCATCACCACCATC ACCATCATCACCATCACCATCATCACCCATCACCATCATCATCACCATCA CATCATCACCATCACCAACATCACCATCACCATCATCACCATCATCACTA TCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATCACC ATCATCACCATCACCATCATCACCTCACCAACATCACCATCATCACCATC ACATCATCACCGTCACCATCATCACCATCATACAACCATCTCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1C_chr12_2047987_2702950	2539214	C C	CTTCATAA others(813): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGTTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0010 a0001c0020t0002g0010	1	92	0.0109	820	c.139 others(841): Show c.1391-10361_1391-10360insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCA GGTTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539706	T T	TTTCATAA others(813): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0053 a0001c0003t0044g0053	1	64	0.0156	820	c.139 others(841): Show c.1391-10197_1391-10196insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(813): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCCTC CTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0032 a0001c0001t0016g0032	1	99	0.0101	820	c.244 others(839): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAA GGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293507	G G	GGTCCACC others(813): Show GGTCCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTT CCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACGTGCC ACAGCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCTATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACGTGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATTCTCACCCGCCACAGCTCACCTTCC TATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCAC GGCCCACCTTCCTGTCCCCTCACCTGCCACAGCCCATCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0031 a0001c0058 a0001c0006 a0001c0031 a0001c0058	a0001c0006t0001 a0001c0031t0001 a0001c0058t0001 a0001c0006t0001 a0001c0031t0001 a0001c0058t0001	a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0031t0001g0007 others(1): Show a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0031t0001g0007 a0001c0058t0001g0252	4	178	0.0225	820	c.411 others(837): Show c.4112+665_4112+666insTGTGGCAGGTGAGGGGACAGGAAGGTGG GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGATGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGGAAGGT GAGCTGTGGCGGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT AGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGA GCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGGAC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0319 a0003c0004t0010g0319	1	38	0.0263	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0315 a0003c0004t0010g0315	1	38	0.0263	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0046 a0001c0001t0031g0046	1	38	0.0263	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	38	0.0263	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGG GGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAA TAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACT ATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGT TAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAG TGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGG AAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGG CAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTG TGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCT CATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATAC GTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGC TATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAA ACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTA CATATATATATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0038 a0003c0004t0038	a0003c0004t0038g0314 a0003c0004t0038g0314	1	38	0.0263	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGAGAGAGGGAGGGAG GGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGC AAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATC GTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAA AATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGG GAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGG ACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTA AATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGG TGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGA GTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAA GAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGA TATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAG ATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAA TACATCCATACTACATATATATATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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