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
DNAJB6_chr7_157332004_157422439	157369784	C C	CGTTATTA others(297): Show CGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGG CCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTA AACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTAT TATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC ATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTC ATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	370	0.0027	304	c.346 others(321): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAA CGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATT ATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACA TCATTATTAAACAGGCCTTTCATAAT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9			chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369839	C C	TGTTATTA others(297): Show TGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACGGGCCCCT TCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAG GCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTA AACAGGCCTTTCATAATGTTATTATTAAACGGGCCCCTTCTTCACATTAT TATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC ATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTC ATAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	207	0.0048	304	c.346 others(321): Show c.346+2355_346+2356insTGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAG CCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAATGTTATTATTAA ACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTAT TATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAAC ATCATTATTAAACAGGCCTTTCATAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9			chr7	TogoVar
DOCK1_chr10_126900428_127457516	127397038	G G	GGTGTCTC others(297): Show GGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGCGACTCCTAT GTGATCTGAGCATCAGTTACACGGGCAGCGACTCCTATGTGATCTGAGCA TAAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATGAGTTACACGG GCGGCGACTCCTATGTGAACTGAGCATGAGTTACATGGGCGGTGTCTCCT ATGTGATCTGAGCATGAGTTACACGGGTGGTGTCTCCTATGTGATCTGAG CATGAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATCAGTTACAC GGGCA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	134	0.0075	304	c.392 others(323): Show c.3928-6016_3928-6015insTGTCTCCTATGTGATCTGAGCATGAG TTACACGGGCAGCGACTCCTATGTGATCTGAGCATCAGTTACACGGGCAG CGACTCCTATGTGATCTGAGCATAAGTTACACGGGCAGTGTCTCCTATGT GATCTGAGCATGAGTTACACGGGCGGCGACTCCTATGTGAACTGAGCATG AGTTACATGGGCGGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGT GGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGTGTCTCCTAT GTGATCTGAGCATCAGTTACACGGGCAG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(297): Show TCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGC AGCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	183	0.0055	304	c.-10 others(323): Show c.-107+5804_-107+5805insCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGC TCCCCTCCCTGCAGCCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634955	T T	TCCTTTCC others(297): Show TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTT CCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	245	0.0041	304	c.105 others(319): Show c.105-945_105-944insCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC CCTTTCCCCTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(297): Show ATATATACTATATATATACTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATACTATA TATATAGTATATATATAGTATATATATAGTATAATATAGTGTATATATAG TATATATATATAGTGTATATATAGTATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATGTATATATAT ATAGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02622.hp1 HG02970.hp1 HG01261.hp2 HG02622.hp1 HG02970.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0005 a0003c0009t0005	a0003c0009t0005g0007 a0003c0009t0005g0008 a0003c0009t0005g0009 a0003c0009t0005g0007 a0003c0009t0005g0008 a0003c0009t0005g0009	3	171	0.0175	304	c.355 others(323): Show c.355-25704_355-25703insTATATACTATATATATACTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATACTATATATATAGTATATATATAGTATATATAT AGTATAATATAGTGTATATATAGTATATATATATAGTGTATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYNC2I1_chr7_158851558_158951189	158915424	G G	GACACGCT others(297): Show GACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGGTGGTT GAGATAAAGGATGATGGTGAAACCTCGACACGGTGGTTGAGATTAAGGAT GATTGTGAAACCTGGACACGCTGGTTGACATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGG TTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGG ATGATTGTGAAACGTTGACACAGTGGTTGACATTAAGGATGATTGTGAAA CGTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	271	0.0037	304	c.179 others(323): Show c.1791+1116_1791+1117insCATTAAGGATGATTGTGAAACCTCGA CACGGTGGTTGAGATAAAGGATGATGGTGAAACCTCGACACGGTGGTTGA GATTAAGGATGATTGTGAAACCTGGACACGCTGGTTGACATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTC GACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GACATTAAGGATGATTGTGAAACGTTGACACAGTGGTTGACATTAAGGAT GATTGTGAAACGTTTACACGCTGGTTGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(297): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCC CACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0196 a0001c0005t0001g0196	1	52	0.0192	304	c.13 others(315): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTG GGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGC TTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTG AGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATG CAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63487184	G G	GGGAACCT others(297): Show GGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAAC CTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCA CCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCC ACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTC CGCATCCTCAGGGAAGCTGCCCATCCTCCACCCTGACCCTCCTCCGCATC CTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	333	0.0030	304	c.11 others(315): Show c.1113_*1114insTTGAGGATGCGGAGGAGGGTCAGGGTGGAGGATG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCA GAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAG GGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGG GGGGAGGGTGGGCAGGTTCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		829		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63487184	G G	GGGAACCT others(297): Show GGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAAC CTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCA CCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCC ACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCAC CCTCCTCCTCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTC CGCATCCTCAGGGAAGCTGCCCATCCTCCACCCTGACCCTCCTCCGCATC CTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	333	0.0030	304	c.11 others(315): Show c.1113_*1114insTTGAGGATGCGGAGGAGGGTCAGGGTGGAGGATG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGAGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCA GAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAG GGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGG GGGGAGGGTGGGCAGGTTCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		829		chr20	TogoVar
EHMT1_chr9_137614005_137841127	137819273	C C	CTGAGGGG others(297): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	150	0.0067	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819273	C C	CTGAGGGG others(297): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	150	0.0067	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGAGTGAGGGGCG CCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0139 a0001c0004t0001g0139	1	117	0.0085	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA GTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	117	0.0085	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG03017.hp1 others(3): Show HG01070.hp1 HG01243.hp2 HG03017.hp1 HG03453.hp1 HG03927.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0101 a0001c0002t0001g0033 a0001c0002t0001g0092 others(3): Show a0001c0001t0001g0101 a0001c0002t0001g0033 a0001c0002t0001g0092 a0001c0002t0001g0141 a0001c0009t0001g0142 a0001c0016t0001g0029	6	122	0.0492	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA TTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG02486.hp1 others(2): Show HG00642.hp1 HG01192.hp2 HG02486.hp1 HG02602.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001	a0001c0002t0001g0065 a0001c0004t0001g0166 a0001c0005t0001g0066 others(2): Show a0001c0002t0001g0065 a0001c0004t0001g0166 a0001c0005t0001g0066 a0001c0005t0001g0073 a0001c0005t0001g0117	5	121	0.0413	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	117	0.0085	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCC ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGTGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0034 a0001c0011t0001g0034	1	117	0.0085	304	c.354 others(323): Show c.3540+1210_3540+1211insTTGAGGGGTGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA TTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(297): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGG CGCCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	117	0.0085	304	c.354 others(323): Show c.3540+1207_3540+1208insTGATTGAGGGGCGCCGTGTACCGAGA CTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGC CGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGC GCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGA GACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAG GCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGG GCGCCGTGTACCGAGACCGTAGAGAGGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819349	C C	CTGAGGGG others(297): Show CTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0031 a0004c0013t0001g0031	1	117	0.0085	304	c.354 others(323): Show c.3540+1234_3540+1235insTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGATTGAGGGGCGCCGTGTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819373	C C	CGTAGAGA others(297): Show CGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GAGTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG AGACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 HG01891.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0070 a0001c0004t0001g0071	2	124	0.0161	304	c.354 others(323): Show c.3540+1250_3540+1251insTAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGAGTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819373	C C	CGTAGAGA others(297): Show CGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG AGACT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0011 a0001c0005t0001g0012	2	124	0.0161	304	c.354 others(323): Show c.3540+1250_3540+1251insTAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819437	A A	ATGTACCG others(297): Show ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGG CGCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18947.hp2 NA19007.hp2 others(1): Show HG02809.hp1 NA18947.hp2 NA19007.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 others(1): Show a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0005t0001g0063	4	100	0.0400	304	c.354 others(323): Show c.3540+1364_3540+1365insGAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATT GAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELMO1_chr7_36847906_37453864	37292711	G G	GCAGCCGC others(297): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCATCCGGGAGAGA GTTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02922.hp1 others(3): Show HG02630.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0004t0002	a0001c0001t0005g0006 a0001c0002t0003g0013 a0001c0002t0005g0031 others(3): Show a0001c0001t0005g0006 a0001c0002t0003g0013 a0001c0002t0005g0031 a0001c0002t0006g0014 a0001c0004t0002g0003 a0001c0004t0002g0086	6	75	0.0800	304	c.193 others(323): Show c.193-20830_193-20829insGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCAACTCTCTCCCGGATGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCCCTCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCGGCTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37292711	G G	GCAGCCGC others(297): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCATCCGGGAGAGA GTTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG02109.hp1 others(5): Show HG00741.hp1 HG01192.hp1 HG02109.hp1 HG02559.hp1 HG02895.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0007t0001	a0001c0001t0001g0074 a0001c0002t0001g0010 a0001c0002t0003g0077 others(5): Show a0001c0001t0001g0074 a0001c0002t0001g0010 a0001c0002t0003g0077 a0001c0002t0004g0053 a0001c0002t0006g0021 a0001c0002t0007g0018 a0001c0002t0009g0069 a0001c0007t0001g0015	8	77	0.1039	304	c.193 others(323): Show c.193-20830_193-20829insGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGAACCCCCCAACTCTCTCCCGGATGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCCCTCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCGGCTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37292711	G G	GCAGCCGC others(297): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCATCCGGGAGAGA GTTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG03471.hp1 HG02615.hp2 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0030 a0001c0001t0006g0004 a0001c0001t0008g0059 a0001c0001t0002g0030 a0001c0001t0006g0004 a0001c0001t0008g0059	3	72	0.0417	304	c.193 others(323): Show c.193-20830_193-20829insGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCAACTCTCTCCCGGATGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCCCTCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCGGCTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37292713	A A	AGCCGCCC others(297): Show AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCATCCGGGAGAGAGT TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG03195.hp1 others(3): Show HG02818.hp1 HG02886.hp2 HG03195.hp1 HG06807.hp2 NA19000.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0003t0002	a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0003g0044 others(3): Show a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0003g0044 a0001c0001t0015g0061 a0001c0001t0017g0012 a0001c0003t0002g0091	6	90	0.0667	304	c.193 others(323): Show c.193-20832_193-20831insAGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCAACTCTCTCCCGGATGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCACCTCCCTCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGCGGC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(297): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	376	0.0027	304	c.83+ others(317): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(297): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG02257.hp1 others(6): Show HG00741.hp1 HG02109.hp2 HG02257.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp1 HG03516.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0001c0006 a0001c0017 others(3): Show a0001c0005 a0001c0006 a0001c0017 a0002c0002 a0003c0001 a0005c0011	a0001c0005t0002 a0001c0005t0026 a0001c0006t0001 others(5): Show a0001c0005t0002 a0001c0005t0026 a0001c0006t0001 a0001c0017t0002 a0002c0002t0009 a0003c0001t0017 a0003c0001t0039 a0005c0011t0016	a0001c0005t0002g0157 a0001c0005t0026g0120 a0001c0006t0001g0005 others(6): Show a0001c0005t0002g0157 a0001c0005t0026g0120 a0001c0006t0001g0005 a0001c0017t0002g0146 a0002c0002t0009g0164 a0003c0001t0017g0172 a0003c0001t0017g0173 a0003c0001t0039g0196 a0005c0011t0016g0144	9	76	0.1184	304	c.78- others(319): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGCAGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAA CGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACC GCGCCCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(297): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG02027.hp2 others(5): Show HG00609.hp1 HG00735.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 NA18942.hp2 NA18998.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0003 a0001c0004t0012 a0001c0005t0003 a0001c0004t0003 a0001c0004t0012 a0001c0005t0003	a0001c0004t0003g0242 a0001c0004t0003g0255 a0001c0004t0003g0263 others(5): Show a0001c0004t0003g0242 a0001c0004t0003g0255 a0001c0004t0003g0263 a0001c0004t0003g0271 a0001c0004t0003g0273 a0001c0004t0003g0284 a0001c0004t0012g0264 a0001c0005t0003g0253	8	238	0.0336	304	c.914 others(319): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(297): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18949.hp2 HG02280.hp2 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0001c0003t0001 a0002c0002t0002	a0001c0003t0001g0293 a0002c0002t0002g0013 a0001c0003t0001g0293 a0002c0002t0002g0013	2	261	0.0077	304	c.189 others(323): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT4_chr5_180596506_180654600	180635151	A A	AGTATGGG others(297): Show AGTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGG TGGATGGGTGGGTGGGTGGGTGGCTGAGAGGATGGATGCATGGATGGACG GAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGAAGTATGGGTGGATGGGTGGGTGGATGGATGGATGGATGGAAGTATG GGTGGAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGA TGGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	146	0.0068	304	c.59- others(319): Show c.59-3374_59-3373insACCCATCCACCCATACTTCCATCCATCCAT GCATCCATCCACCCACCCCTCCACCCATACTTCCATCCATCCATCCATCC ACCCACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCCAC CCATCCACCCATCCACCCATACTTCCGTCCATCCATGCATCCATCCTCTC AGCCACCCACCCACCCACCCATCCACCCATACTTCCCTCCATGCATCCAT CCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCC ATCCACCCACCCCTCCACCCATAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXR1_chr11_118966761_118986287	118966927	T T	TGCTCCAT others(297): Show TGCTCCATTGCACTCCAGCCTGGGCAACAAGGGTGAAAACTCCTTCTCAA AAAAAAAAAAAAAAAAAAGGCGTGGTGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGA CCATCCTGGTTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATAGCTGGGCACGATGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCT GAGGCAGGAGAATGGCATTGAACCCGGGAGACGGAGCTTGCAGTGAGCCA AGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG02055.hp2 others(13): Show HG01099.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0081	16	426	0.0376	304	c.-50 others(315): Show c.-5005_-5004insGCTCCATTGCACTCCAGCCTGGGCAACAAGGGTG AAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCGTGGTGCAGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAG GTCAGGAGATCAAGACCATCCTGGTTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATAGCTGGGCACGATGGCGGGCGCCTGTAGTCCCA GCTACTAGGGAGGCTGAGGCAGGAGAATGGCATTGAACCCGGGAGACGGA GCTTGCAGTGAGCCAAGATC	FOXR1	ENSG00000176302.13	transcript	ENST00000317011.8	protein_coding		4833		chr11	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(297): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0107 a0001c0001t0021g0107	1	139	0.0072	304	c.187 others(321): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGC TGAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(297): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCACCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCTAGCCGCC CCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG TTCAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	126	0.0079	304	c.187 others(321): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCC TGATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182564	T T	TATATACA others(297): Show TATATACACTATATATAGTGTATATATACACTATATATATATATACTATA TATATGCATATATAGTATATATACACTATATATACACTATATATACATAT AGTGTATATAGTATATATACACTATATATACACTATATATGTATAGTATA TATACACTATATATAGTATATATACACTATATATAGTATATATACACTAT ATATATAGTATATATACACTATATATAGTATATATACACTATATATATAG TATATATACACTATATATATAGTATATATACACTATATATATAGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	193	0.0052	304	c.114 others(323): Show c.1143+7165_1143+7166insGTATATATACACTATATATATAGTGT ATATATACTATATATATAGTGTATATATACTATATATATAGTGTATATAT ACTATATATAGTGTATATATACTATATATATAGTGTATATATACTATATA TAGTGTATATATACTATATATAGTGTATATATACTATACATATATAGTGT ATATATAGTGTATATATACTATATACACTATATGTATATATAGTGTATAT ATAGTGTATATATACTATATATGCATATATATAGTATATATATATATAGT GTATATATACACTATATATAGTGTATAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRG3_chr15_26966181_27546984	27388114	A A	AAGGAAGG others(297): Show AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAG GGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGA AAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGG AAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGA AAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGG AAAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	85	0.0118	304	c.574 others(323): Show c.574+59270_574+59271insGAAAGGAGGGAGGAAAGGGAGGGAGG GAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAA GGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(297): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	230	0.0043	304	c.-32 others(315): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GLIS2_chr16_4311067_4344595	4344478	C C	CTGTGAGA others(297): Show CTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGT GAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTT CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGT GACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0095 a0001c0002t0027g0095	1	355	0.0028	304	c.69 others(315): Show c.6954_*6955insTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGG GTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGTGACTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4884		chr16	TogoVar
GPC5_chr13_91393621_92872237	91861712	T T	TAAAACAT others(297): Show TAAAACATGTTGCTATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGACGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp2 HG02258.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0002 a0001c0001t0001g0029 a0001c0001t0002g0002	2	42	0.0476	304	c.128 others(325): Show c.1281-46211_1281-46210insTCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACATGTTGCTA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66629173	A A	ATATTTAT others(297): Show ATATTTATATACGTATATAAATATGTATATAAATATATATTTATATACGT ATATAAATATGTATATAAATATATATTTATATACGTATATAAATATGTAT ATAAATATATATTTATATACGTATATAAATATGTATATAAATATATATTT ATATACGTATATAAATATGTATATAAATATATATTTATATACGTATATAA ATATATATTTATATACGTATATAAATATGTATATAAATATATATTTATAT ACGTATATAAATATGTATATAAATATATATTTATATATGTATATAAATAT ATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	108	0.0093	304	c.65- others(321): Show c.65-51931_65-51930insTTATATACGTATATAAATATGTATATAA ATATATATTTATATACGTATATAAATATGTATATAAATATATATTTATAT ACGTATATAAATATGTATATAAATATATATTTATATACGTATATAAATAT GTATATAAATATATATTTATATACGTATATAAATATGTATATAAATATAT ATTTATATACGTATATAAATATATATTTATATACGTATATAAATATGTAT ATAAATATATATTTATATACGTATATAAATATGTATATAAATATATATTT ATATATGTATATAAATATATATTTAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPI_chr19_34360196_34407413	34393462	A A	AAGGTCTG others(297): Show AAGGTCTGGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	312	0.0032	304	c.865 others(319): Show c.865+167_865+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAGGTCTGGGTTTT	GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CACATATA others(297): Show CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAAA TATATATAAATATACATGTATATTTATTCACATATAAATATATATAAATA TACATGTATATTTATTCACATATAAATATATATAAATATACATTTACATA TAAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0042 a0001c0003t0043g0042	1	131	0.0076	304	c.-97 others(321): Show c.-97-2259_-97-2258insCATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATTTACATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CACATATA others(297): Show CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATTTACATA TAAAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	131	0.0076	304	c.-97 others(321): Show c.-97-2259_-97-2258insCATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATTTACATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GREB1_chr2_11529045_11647788	11618200	G G	GACTCCTG others(297): Show GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGCCACTCCTGGGACAGGTCACTCCTGGGAT GGGCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19057.hp2 NA18952.hp1 NA19057.hp2	a0004 a0004	a0004c0004 a0004c0082 a0004c0004 a0004c0082	a0004c0004t0002 a0004c0082t0002 a0004c0004t0002 a0004c0082t0002	a0004c0004t0002g0227 a0004c0082t0002g0225 a0004c0004t0002g0227 a0004c0082t0002g0225	2	264	0.0076	304	c.341 others(319): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGCCACTCC TGGGACAGGTCACTCCTGGGATGGGCCACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618232	G G	GACTCCTG others(297): Show GACTCCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0141 a0003c0003t0001g0141	1	306	0.0033	304	c.341 others(319): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGCCACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88589159	G G	GAAAAGAT others(297): Show GAAAAGATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0171 a0001c0002t0010g0171	1	182	0.0055	304	c.169 others(323): Show c.1690+1441_1690+1442insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTATCTTTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	7/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCT others(297): Show TCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCT CCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCC CCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCC TCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCC TCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0114 a0001c0001t0014g0114	1	258	0.0039	304	c.427 others(321): Show c.427-1034_427-1033insCCCCTCCTCCCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCT CCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(297): Show GCATTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0155	1	96	0.0104	304	c.-43 others(315): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAATAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(297): Show GCATTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	96	0.0104	304	c.-43 others(315): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAGAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar

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