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
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(309): Show TCCTAGATGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTA GTAGAGACGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGAA CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0336 a0003c0004t0002g0336	1	390	0.0026	316	c.203 others(335): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(309): Show TCCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCTCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0103 a0008c0009t0001g0103	1	314	0.0032	316	c.119 others(333): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGAGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAA AGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATG GGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGGG AGGAAAGGGGATGGGGGAGGGAGGAAAGAGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EYA1_chr8_71192433_71367069	71293806	C C	CAAAAAAC others(309): Show CAAAAAACAACTTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGACTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0217 a0001c0003t0002g0217	1	232	0.0043	316	c.826 others(333): Show c.826+5240_826+5241insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGTCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGTAAGTTGTTTTTT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	9/17			chr8	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(309): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	412	0.0024	316	c.46 others(327): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCG TGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGG GAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(309): Show GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGG CGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	412	0.0024	316	c.46 others(327): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAG GAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCG TGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGG GAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
FAM133B_chr7_92555758_92595390	92576378	T T	TAAAAGAC others(309): Show TAAAAGACAAAGAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	328	0.0031	316	c.466 others(331): Show c.466-558_466-557insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCCATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTCTCTTTGTCTTTT	FAM133B	ENSG00000234545.8	transcript	ENST00000445716.6	protein_coding	7/10			chr7	TogoVar
FAM135A_chr6_70408508_70566174	70502430	T T	TAAAAATT others(309): Show TAAAAATTCTTTCAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGTGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0212 a0001c0009t0001g0211 a0001c0009t0001g0212	2	268	0.0075	316	c.874 others(331): Show c.874-206_874-205insAAAAATTCTTTCAGTAAGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGTGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	11/21			chr6	TogoVar
FAM149B1_chr10_73163119_73249504	73240839	T T	TAAGAAAG others(309): Show TAAGAAAGTCCAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0020 a0007c0011t0020	a0007c0011t0020g0215 a0007c0011t0020g0215	1	236	0.0042	316	c.167 others(331): Show c.1676-92_1676-91insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAGAAAGTCCAATTC	FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM185A_chr7_102743999_102814225	102777218	G G	GAATTATT others(309): Show GAATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	380	0.0026	316	c.836 others(329): Show c.836-26_836-25insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAAATTATTTT	FAM185A	ENSG00000222011.9	transcript	ENST00000413034.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM210A_chr18_13658347_13731558	13673916	T T	TATTTCCA others(309): Show TATTTCCAGTTTCCTGACTATTAACATTCCTGAGCCCCGACTTCATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCAGTT TCCTGATTATTATAATTCCTGAGCCCTGGCTTCTTTATTTCCAGTTTCCT GATTATTAACATTCCTGAGCCCAGGCTTCTTTATTTCCAGTTTCCTGATT ATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTGATTATTA AAATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCC TGAGCCCTAGCTTCTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0063 a0001c0001t0021g0063	1	326	0.0031	316	c.474 others(333): Show c.474-1944_474-1943insCAAGAAGCTAGGGCTCAGGAATGTTAAT AATCAGGAAACTGGAAATGAAGTCGGGGCTCAGGAATTTTAATAATCAGG AAACAGGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAAC TGGAAATAAAGAAGCCTGGGCTCAGGAATGTTAATAATCAGGAAACTGGA AATAAAGAAGCCAGGGCTCAGGAATTATAATAATCAGGAAACTGGAAATA AAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGT CGGGGCTCAGGAATGTTAATAGTCAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM217A_chr6_4063367_4084137	4074936	T T	TCAAAATT others(309): Show TCAAAATTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	434	0.0023	316	c.61- others(329): Show c.61-276_61-275insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAACCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAATCAATTTTG	FAM217A	ENSG00000145975.15	transcript	ENST00000274673.8	protein_coding	2/6			chr6	TogoVar
FAM229B_chr6_112082591_112107790	112096687	T T	TAAAGAAT others(309): Show TAAAGAATCCCATGTGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGG GCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAA CCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACCCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	418	0.0024	316	c.-17 others(333): Show c.-175-340_-175-339insGCCTGTAATCCCAGCACTTTGGGAGGCA GAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGC GGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCAC CCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAAGAATCCCATGT	FAM229B	ENSG00000203778.8	transcript	ENST00000368656.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169523993	T T	TAGACCCT others(309): Show TAGACCCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0303 a0001c0006t0001g0303	1	392	0.0026	316	c.58 others(327): Show c.5831_*5832insGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAGAGGGTCT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		4514		chr2	TogoVar
FAT1_chr4_186582794_186728856	186651508	T T	TAAAAATC others(309): Show TAAAAATCTTTCATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGCGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0276 a0001c0020t0002g0276	1	338	0.0030	316	c.358 others(337): Show c.3581-11726_3581-11725insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCCGGGACCACAGGCGCGCGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCTCATGAAAGATTTTT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FER1L6_chr8_123846987_124125061	124034159	A A	AGAAGAAG others(309): Show AGAAGAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0097 a0001c0058t0001g0097	1	196	0.0051	316	c.228 others(335): Show c.2287-1118_2287-1117insGAAGAAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAG	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	18/40			chr8	TogoVar
FERMT1_chr20_6069845_6128030	6079344	G G	GAAGAACA others(309): Show GAAGAACACCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG03453.hp2 HG02055.hp2 HG02572.hp1 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0022 a0001c0016 a0001c0022	a0001c0016t0019 a0001c0022t0019 a0001c0016t0019 a0001c0022t0019	a0001c0016t0019g0187 a0001c0016t0019g0188 a0001c0022t0019g0201 a0001c0016t0019g0187 a0001c0016t0019g0188 a0001c0022t0019g0201	3	368	0.0082	316	c.186 others(331): Show c.1860+91_1860+92insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGTTCTT	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding	14/14			chr20	TogoVar
FHAD1_chr1_15242223_15403328	15314635	G G	GTGGGTGT others(309): Show GTGGGTGTGTGGGAGGGTGTGTGAGGGTGTGGATGTGTGTGGGTATGTGG GGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGTGAGAGGGTGTG TGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATGGGTGTGAGTAT GGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATGTGTGGGTGAGG GTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGTGTGTGTGGGTG TGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTAT GGGTGTGTGGGGGTGTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0006 a0002c0035t0006	a0002c0035t0006g0026 a0002c0035t0006g0026	1	294	0.0034	316	c.117 others(335): Show c.1170+1460_1170+1461insAGGGTGTGTGAGGGTGTGGATGTGTG TGGGTATGTGGGGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGT GAGAGGGTGTGTGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATG GGTGTGAGTATGGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATG TGTGGGTGAGGGTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGT GTGTGTGGGTGTGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTG TGGGGGTGTATGGGTGTGTGGGGGTGTATGGGTGTGTGGG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(309): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19057.hp1 NA20129.hp2 HG01099.hp2 NA19057.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0002g0235 a0001c0001t0002g0236 a0004c0006t0001g0344 a0001c0001t0002g0235 a0001c0001t0002g0236 a0004c0006t0001g0344	3	370	0.0081	316	c.189 others(335): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FILIP1L_chr3_99823811_100119501	99936540	T T	TAATTTTT others(309): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	258	0.0039	316	c.-10 others(333): Show c.-10-5511_-10-5510insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATT	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FILIP1L_chr3_99823811_100119501	99936540	T T	TAATTTTT others(309): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	258	0.0039	316	c.-10 others(333): Show c.-10-5511_-10-5510insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATT	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999038	T T	TATAAATA others(309): Show TATAAATATATATGTATATACATATAAATATATATGTATATACATATATA TGTATGTATATTATATACATATAAATATATATGTATATAAATATAAATAT ATATATTTATATACATATAAATATATATTTATATACATATAAATATATAT TTACATACATATAAATATATATTTACATACATATAAATATATATATTTAT ATACATATAATACATATACATATATACATATAAATATATATTTATATACA TATAAATATATATATATTTATATATATTTATATATATACATATAAATATA TATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0001 a0003c0050t0001	a0003c0050t0001g0290 a0003c0050t0001g0290	1	292	0.0034	316	c.50 others(327): Show c.5013_*5014insTTATATGTATATAAATATATATTTATATGTATAT ATATAAATATATATAAATATATATATATTTATATGTATATAAATATATAT TTATATGTATATATGTATATGTATTATATGTATATAAATATATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATTTATATA CATATATATTTATATGTATATAATATACATACATATATATGTATATACAT ATATATTTATATGTATATACATATATATTTAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4235		chr13	TogoVar
FNDC3B_chr3_172034578_172406669	172166003	T T	TGAGAGCT others(309): Show TGAGAGCTAATCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCTAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0075 a0001c0001t0066g0075	1	196	0.0051	316	c.187 others(335): Show c.187+32472_187+32473insTTTTCTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCTAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGAGAGCTAATCTTTT	FNDC3B	ENSG00000075420.13	transcript	ENST00000415807.7	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr3	TogoVar
FNDC3B_chr3_172034578_172406669	172166003	T T	TGAGAGCT others(309): Show TGAGAGCTAATCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCTAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	196	0.0051	316	c.187 others(335): Show c.187+32472_187+32473insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCTAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGAGAGCTAATCTTTT	FNDC3B	ENSG00000075420.13	transcript	ENST00000415807.7	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435827	C C	CGGAGGGA others(309): Show CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0083 a0001c0001t0026g0083	1	96	0.0104	316	c.-16 others(337): Show c.-168+57598_-168+57599insCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435827	C C	CGGAGGGA others(309): Show CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0057 a0001c0001t0033g0057	1	96	0.0104	316	c.-16 others(337): Show c.-168+57598_-168+57599insCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435859	G G	GGGAGGGA others(309): Show GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0024 a0001c0001t0076g0024	1	96	0.0104	316	c.-16 others(337): Show c.-168+57566_-168+57567insTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(309): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCT CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT TTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0006 a0055 a0006 a0055	a0006c0016 a0055c0078 a0006c0016 a0055c0078	a0006c0016t0008 a0055c0078t0013 a0006c0016t0008 a0055c0078t0013	a0006c0016t0008g0111 a0055c0078t0013g0136 a0006c0016t0008g0111 a0055c0078t0013g0136	2	178	0.0112	316	c.272 others(335): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGC CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAAGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM2_chr13_38682077_38892131	38878389	T T	TAAAAACA others(309): Show TAAAAACAAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	262	0.0038	316	c.885 others(331): Show c.8859+82_8859+83insCCGGGCGCGGTGGCTCACGCCTGTAGTCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGCTGG	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FUT8_chr14_65407730_65749121	65456583	T T	TAAAAAAT others(309): Show TAAAAAATTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	374	0.0027	316	c.-22 others(333): Show c.-228+876_-228+877insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAA_chr17_80096581_80124881	80113808	C C	CAAGAGTT others(309): Show CAAGAGTTCGAGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03831.hp1 HG03942.hp2 others(2): Show HG02135.hp1 HG03831.hp1 HG03942.hp2 NA18944.hp2 NA18956.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0005c0017 a0004c0005 a0005c0006 a0005c0017	a0004c0005t0002 a0005c0006t0002 a0005c0017t0002 a0004c0005t0002 a0005c0006t0002 a0005c0017t0002	a0004c0005t0002g0125 a0004c0005t0002g0133 a0005c0006t0002g0043 others(1): Show a0004c0005t0002g0125 a0004c0005t0002g0133 a0005c0006t0002g0043 a0005c0017t0002g0136	5	416	0.0120	316	c.218 others(333): Show c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAA GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGTTCGAGGCCAG	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABBR2_chr9_98283109_98713935	98328029	T T	TGGGATCA others(309): Show TGGGATCAATATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0037 a0002c0020t0037	a0002c0020t0037g0001 a0002c0020t0037g0001	1	164	0.0061	316	c.189 others(337): Show c.1894-16825_1894-16824insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATTGATCCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	13/18			chr9	TogoVar
GABRG3_chr15_26966181_27546984	27388107	G G	GGTAAGGA others(309): Show GGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0061 a0001c0004t0002g0061	1	92	0.0109	316	c.574 others(335): Show c.574+59220_574+59221insTAAGGAAGGAAGGAAGAAAGGAAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGA AGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27520634	T T	TCCCAAAA others(309): Show TCCCAAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 HG01884.hp2 HG03471.hp2	a0001 a0001	a0001c0013 a0001c0014 a0001c0013 a0001c0014	a0001c0013t0023 a0001c0014t0024 a0001c0013t0023 a0001c0014t0024	a0001c0013t0023g0006 a0001c0014t0024g0057 a0001c0013t0023g0006 a0001c0014t0024g0057	2	92	0.0217	316	c.865 others(331): Show c.865+521_865+522insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCAAAATCTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(309): Show ACCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCT CAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CGTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	314	0.0032	316	c.23 others(327): Show c.2366_*2367insCCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACGTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GALC_chr14_87928014_87998182	87949141	C C	CAAAAGAT others(309): Show CAAAAGATGACAAAGCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGG GGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAGAA AGGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18966.hp2 NA18986.hp2 others(6): Show NA18959.hp2 NA18966.hp2 NA18986.hp2 NA18998.hp1 NA19001.hp1 NA19057.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0027 a0002c0004t0002g0279 a0002c0004t0002g0280 others(5): Show a0002c0004t0002g0027 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0281 a0002c0004t0002g0282 a0002c0004t0002g0283 a0002c0004t0002g0291 a0002c0004t0002g0292	9	370	0.0243	316	c.133 others(333): Show c.1338+703_1338+704insTTTTTTTTTTTTTTCCTTTCTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGCTTTGTCATCTTTT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	12/16			chr14	TogoVar
GALNT7_chr4_173163811_173328967	173228289	T T	TCTTCTAG others(309): Show TCTTCTAGTCATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00738.hp2 others(3): Show HG00423.hp2 HG00597.hp2 HG00738.hp2 NA18966.hp1 NA18969.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0156	6	266	0.0226	316	c.127 others(335): Show c.127-19676_127-19675insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTTCTAGTCATTTCT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132241527	A A	ACACCCTT others(309): Show ACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCCAGGGCCGTACCTATACCCATTACACACACAACACACACCCTTCC CGGGGCCCTCCCTATACACATTACACACACGCCACACCCCCTTCCCAGGG CCCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTTACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTA AACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACACCACG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	183	0.0055	316	c.107 others(335): Show c.1077+6382_1077+6383insCGTGGTGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTTTAGGGAGGG CCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAA GGGGGTGTGGCGTGTGTGTAATGTGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGTACGGCCCTGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241528	C C	CACCCTTC others(309): Show CACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACACCACC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTACA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGA CCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATC CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TAAACACACAACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	183	0.0055	316	c.107 others(335): Show c.1077+6381_1077+6382insTGTGTGTTGTGTGTTTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAG GTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTG GCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242159	A A	ACCCTTCC others(309): Show ACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCT TCCAGGCGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAG GGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCC GTACCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCC TATACACATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATCC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT TACACACACGCCACGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	183	0.0055	316	c.107 others(335): Show c.1077+5750_1077+5751insGGCGTGGCGTGTGTGTAAATGGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGA GGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGTGTATAGGGAGGGCC CCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGTACGGCCCTGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCGCCTGGAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(309): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18941.hp1 NA18944.hp2 others(6): Show HG00621.hp1 NA18941.hp1 NA18944.hp2 NA18953.hp1 NA18963.hp2 NA18975.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0006g0001 a0001c0001t0014g0001	9	424	0.0212	316	c.-32 others(327): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GDPD4_chr11_77211558_77306686	77279525	G G	GTGAACAG others(309): Show GTGAACAGCAGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTTGCCCAGGCTGGAATGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	350	0.0029	316	c.54- others(329): Show c.54-127_54-126insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAGCTGCTGTTCA	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	3/16			chr11	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0059 a0001c0003t0001g0060	2	412	0.0049	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCCGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20805.hp2 HG01361.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0061 a0001c0001t0003g0062	2	412	0.0049	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(37): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG01255.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp2 NA18522.hp2 NA18947.hp1 NA18951.hp2 NA18957.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0013 a0001c0027 a0003c0005	a0001c0001t0003 a0001c0001t0010 a0001c0003t0002 others(10): Show a0001c0001t0003 a0001c0001t0010 a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0010t0003 a0001c0013t0001 a0001c0027t0003 a0003c0005t0004	a0001c0001t0003g0066 a0001c0001t0010g0067 a0001c0003t0002g0070 others(33): Show a0001c0001t0003g0066 a0001c0001t0010g0067 a0001c0003t0002g0070 a0001c0003t0007g0071 a0001c0003t0007g0089 a0001c0003t0007g0193 a0001c0003t0007g0194 a0001c0003t0007g0195 a0001c0003t0008g0073 a0001c0003t0009g0192 a0001c0004t0001g0017 a0001c0004t0001g0030 a0001c0004t0003g0007 a0001c0004t0003g0017 a0001c0004t0003g0018 a0001c0004t0003g0030 a0001c0004t0003g0052 a0001c0004t0003g0055 a0001c0004t0003g0056 a0001c0004t0003g0057 a0001c0004t0003g0063 a0001c0004t0003g0064 a0001c0004t0003g0068 a0001c0004t0003g0069 a0001c0004t0003g0091 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0097 a0001c0004t0003g0100 a0001c0004t0003g0189 a0001c0004t0009g0065 a0001c0010t0003g0016 a0001c0010t0003g0058 a0001c0013t0001g0190 a0001c0027t0003g0191 a0003c0005t0004g0072	40	412	0.0971	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACTGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18945.hp2 NA20905.hp2 HG03831.hp1 NA18945.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0093 a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0093	3	412	0.0073	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACTGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0196 a0001c0003t0007g0196	1	412	0.0024	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(309): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0076 a0001c0004t0003g0076	1	412	0.0024	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644866	C C	CAAGAGCG others(309): Show CAAGAGCGAAACTTCGTCACACACACACACACACACACAAGAAAGAAAGA AAAAATAGTGGCCAGGCGTGGAGGCTCACGCATCCCAGCATTTTGGGAGG TCGGGGCGGGCGGATCACGAGATCAGGAGTTGGAGACCAGCCTGGCCAAC AGAGTGAAACCCCGTCTCTAGTAAAAATACAAATTTAGTCACACATGGTG GCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGAGACAGGAAAATCAC TTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCTGAGATCGCGCCACT GCACTCCAGCCTGGGCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	412	0.0024	316	c.-35 others(331): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(309): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	450	0.0022	316	c.55 others(327): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(309): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAG TAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	416	0.0024	316	c.280 others(331): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCT GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTT TTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

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