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
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(663): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACC ACTACCACTACTACCACTACTACAACCATTACCACCATCACTGCTATAAC CACCACCACCACCACCATTATCACCATCACCATCACACACCACAACTACC ACCACCACCACCATCACCACTATAACCACTAGCACCACCACTACTATAAC CATCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAA CCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCATC ACCACCATCACCACTATAACCACCACTACCACCACCACCATTATAACCAT CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	45	0.0222	670	c.724 others(689): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACA GTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTAT AGTAGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAG TTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGA TGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATG GTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGT GGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DDX51_chr12_132131594_132149319	132135097	G G	GCTCCTCC others(663): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCC ACCTCCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCAC TCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	249	0.0040	670	c.41 others(681): Show c.4174_*4175insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGTGGGCACCGTGGGCACACTCGGAGAGGTGGGAGGAGTGGGCACCGTGG GCACACTCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGGAG GTGGGAGGAGCGGGCACCGGGGCACACTCGGGGAGGTGGGAGGAGGGGCA CCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTC GGGAGGTGGGAGGTAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAG TGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGC ACACTCGGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGGAGGTGG GAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGGGGCACCGT GGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGA GGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGTGGG CACCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCACAC TCGGGAGGTGGGAGGAGCGGGCACCGGGGCATACTCGGGAGGTGGGAGGA GCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1496		chr12	TogoVar
DGKB_chr7_14140049_14907751	14212132	T T	TATTTACT others(663): Show TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCGTGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCGTG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTG ATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CGTGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	95	0.0105	670	c.212 others(691): Show c.2123-33982_2123-33981insTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAAATCACAAAACACGAGAGTAAATATCACAAAA CACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAATATCACAAAACACGAGAGTAAAATCACAAAACACGAGA GTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAA AACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGA GAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAA AATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCAC AAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACAC GAGAGTAAAATCACAAAACACGAGAGTAAATATCACAAAACACGAGAGTA AAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(663): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATTTCTATATATGATATATATATC ATATATTTCTATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATTTCTATATATGATATATATATCATATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATATGATATATATA TCATATATTTCTATATATGATATATATATCATATATATGATATATATATC ATATATTTCTATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATATGATATATATATCATATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT TTCTATATATGATATATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	15	0.0667	670	c.316 others(689): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATTTCTATATATGATATATATATCATATATTTCTATATATGATAT ATATATCATATATTTCTATATATGATATATATATCATATATTTCTATATA TGATATATATATCATATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATATGATATATATATCATATATTTCTATATATGAT ATATATATCATATATATGATATATATATCATATATTTCTATATATGATAT ATATATCATATATTTCTATATATGATATATATATCATATATATGATATAT ATATCATATATATGATATATATATCATATATTTCTATATATGATATATAT ATCATATATATGATATATATATCATATATTTCTATATATGATATATATAA TATATATGATATATATATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(663): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCATTCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTC ACCATCACCATCACCTCCACCTCCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCC TTCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0013 a0001c0048t0013	a0001c0048t0013g0219 a0001c0048t0013g0219	1	161	0.0062	670	c.323 others(689): Show c.3234+1477_3234+1478insTCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATTCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CTATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCTCCTTCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(663): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATTATATATTATATATT ATATATAATATATAATTATATGTTATATATTATATATATTATATATTATA TATATATTATATATATAATATATATTATATATTAAATTATATATAATATA TATTATATATATAATTTATATATATAAAATATATTATATATTATATAAAT ATATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGA AATGTATATTATATAATATATAATTATATATAATTATATATTATATAATA TATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATA AATATATATTATATACTATATAATGCATTATAAATATATTATATTTATAT ATTATAAATATATTACATATTTATATATTATATATATAATATATATATTA TATATTATAAATATATTTTATAAAATATAATATATATATTATATATTATA TATTATAAATATATTTTATAAAATATAATATATATATTATATATTATATT TTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01071.hp2 others(14): Show HG00099.hp2 HG00140.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01515.hp2 HG01952.hp2 HG02572.hp2 HG02738.hp1 HG03492.hp2 HG03710.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0023 a0001c0002t0026 a0002c0003t0005	a0001c0001t0001g0080 a0001c0001t0002g0022 a0001c0001t0002g0137 others(14): Show a0001c0001t0001g0080 a0001c0001t0002g0022 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0004g0075 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0071 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0023g0057 a0001c0002t0026g0074 a0002c0003t0005g0145	17	208	0.0817	670	c.551 others(689): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATAATTATATATTATATAATATACATTTCTAT ATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTA TATAATATATAATATATTTTATATATATAAATTATATATATAATATATAT TATATATAATTTAATATATAATATATATTATATATATAATATATATATAA TATATAATATATATAATATATAACATATAATTATATATTATATATAATAT ATAATATATAATTATATATAATATATTATATTTTATATAATATATATAAT ATATAATATATTATATATTATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EXD3_chr9_137301896_137428162	137355671	G G	GGGAGGAA others(663): Show GGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGAAGAGGAAGGAGGTAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAG GAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGAGAAAGGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGAAGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0064 a0021c0027t0001g0064	1	57	0.0175	670	c.757 others(685): Show c.757+596_757+597insTTCCTCCTTCCTCTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCT TCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCCTTTCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC CTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCT CCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCCTTCCTCCTTCCTCCTACCTCCTTCCTCTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F10_chr13_113117799_113154529	113151727	C C	CCCTGAGG others(663): Show CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGA AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGGAGAAGTGAT TCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA GGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGAGAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAACCGAGAGCAGCA GGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGT GAGGGAGAGAGAACAGAGGTGAGAACCTGAGGACCGAGAGCAGCAGGAGG TCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGTAGTGAGG GAGAGAGAACAGAGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0184 a0006c0011t0001g0184	1	365	0.0027	670	c.22 others(681): Show c.2210_*2211insCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAG GTGGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGA GACCCTGAGGACCGAGGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGAGAGCAAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGAGA AGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAG GAACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTG ATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGAACCTGAGGACC GAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCC GCCTGAGTAGTGAGGGAGAGAGAACAGAGGTGAGAA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2199		chr13	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(663): Show GAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGG GAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAAGAAGGGGAGGGGAGG AGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAG AAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGG AGGGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGAGCGGGGAGGAGGGGA GGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGG AGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAGG GGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGG GGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCG GGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	6	0.1667	670	c.-17 others(689): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCTCCCCCTCCCCTCCCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTC CCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCC CCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCTCC CCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCGCTCCCCTCCCCTCTCCTCCTCCCCCTCCCCTCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTTCTTCC CCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCC CCTCCCCTTCTTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTC CCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTCC others(663): Show TCCCCTCCCCTCCCTCCCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCT CCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCTCTC CCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACCCCCCTCCC TCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTC CCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCC GCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCC CGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCTCTCTCC CCTCTCTCCATCCTCCCCTCTCTTCCTCCTGTCTCCCCCTCTCCCCCCCT CTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCC CTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCT CCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCCC TTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTC TCCCCCCCTCCCTCTTTCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTC TGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0178 a0001c0010t0001g0178	1	4	0.2500	670	c.126 others(687): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGAAAGAGGGAGGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGG GAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGG GAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGGCAGG GGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGG GAGAGGGGGAGACAGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGA GGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGA GAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGG AGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGG AGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGG GGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGG GGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGG GGAAAGGGGAGGGAGAGGGGGGAGAGGGAGGGAGGGGAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GAK_chr4_844277_937316	927397	A A	ACCCCTCC others(663): Show ACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCT CACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCG CACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCAC CCCTCCCGGCTCACCTGCGGTCCCCCACTGCCTCGCACCCCTCCCCGCTC ACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGC ACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCAC TGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCCACTGCCTCGCACCC CTCCCCGCTCACCTGCGGTCCCCACTGCCCCGCACCCCTCCCCGCTCACC TGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACT GCCCCGCACCCCTCCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCC TCCCGGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCT GCGCTCCGCACTGCCCCGCAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	388	0.0026	670	c.145 others(687): Show c.145+4645_145+4646insGTGCGGGGCAGTGCGGAGCGCAGGTGAG CCGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGC GGGGCAGTGCGGAGCGCAGGTGAGCGGGGGAGGGGTGCGGGGCAGTGCGG AGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGC GGGGAGGGGTGCGGGGCAGTGGGGACCGCAGGTGAGCGGGGAGGGGTGCG AGGCAGTGGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGG GGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACT GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGGTGAGCGGG GAGGGGTGCGAGGCAGTGGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGG GCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCG CAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132242842	C C	CGGGGCCA others(663): Show CGGGGCCATCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGG CCGTCCCTATACCCATTACAAACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCCTAT CCCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACAC CCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTTACACACACCACGCACCCTTCCCGG GGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCC TCCCTATACCCATTGCACACACAACACACACTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACCTATTACA CACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0124 a0001c0013t0004g0124	1	137	0.0073	670	c.107 others(689): Show c.1077+5067_1077+5068insTGGAAGGGTGTGTGTTGTGTGTGTAA TAGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATGGGTATAGGGAGGGCC CCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGTGCGTGGTGTGTGTAAATGGGTATAGGGAGGGCCCCGGGAAGGGG GTGTGGCGTGTGTGTAATGGGGATAGGGACGGCCCCGGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAA TAGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGG GACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCTGGAAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCCTG GGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GCH1_chr14_54837017_54907826	54903940	T T	TGAGTAGC others(663): Show TGAGTAGCTGGTATTACAGGCACATGCCACCACATGAGGCTGATTTTTGT ATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAAC TCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTAGGATT ACAGGCGTGAGCCACCTCGCCCGGCCATTAATATTTTATTTGTTTCAGAG TTTTGTTTTTTGTTTTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGT TGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGC CTGCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCAAGTTACTGGGAT TACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTTGTAGA GACAGGGTTTCACCATGTTGGCCAGGTTGGTCTGGAACTCCTGATCTCAG GTGATTCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGC CACTGCGCCTGGCCTGTTTTGGAGTCTAATGTTGATTTTCTTTTTCTTTC TTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTAACCCAGGCTGGAGTG CAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show HG01496.hp1 HG02257.hp1 HG02280.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0021g0013	4	341	0.0117	670	c.-12 others(681): Show c.-1278_-1277insGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGG GAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGG GTTACAAGAGCGAAACTCCATCTCAAAAAAAAAGAAAGAAAGAAAAAGAA AATCAACATTAGACTCCAAAACAGGCCAGGCGCAGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAATCACCTGAGATCAGGAG TTCCAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATA CAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGTAACTT GGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGCAGGCGGAGGTTGCGG TGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAAC TCCGTCTCAAAAAAAGAAAAAAAAACAAAAAACAAAACTCTGAAACAAAT AAAATATTAATGGCCGGGCGAGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCAAGACCAAC CTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCC TCATGTGGTGGCATGTGCCTGTAATACCAGCTACTC	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		1115		chr14	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(23): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp2 HG02040.hp1 HG02040.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG03017.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp1 NA18986.hp2 NA19004.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0016	26	33	0.7879	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18978.hp2 NA19003.hp2 others(2): Show NA18954.hp2 NA18978.hp2 NA19003.hp2 NA19009.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	12	0.4167	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAAGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGGCCCCGTGCCCCTCCCCCCCAAACAC ACTGCCCGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCGTGTGGCTGCCCCCGGCCC CGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGCTGCCCCCGGCCCCGT GCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCCGTGC CCTTCTCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGAGAAGGGCACGGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGG CAGCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACGGGCAGTGTGTTTGGGGGGG AGGGGCACGGGGCCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(663): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02922.hp2 HG01517.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0146 a0001c0001t0004g0184 a0001c0001t0001g0146 a0001c0001t0004g0184	2	96	0.0208	670	c.-97 others(687): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATAAATATATATATTTATATATATATTTATATTTATATAT ATTTATATTTATATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(663): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATC TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01256.hp1 others(1): Show HG00642.hp1 HG01099.hp1 HG01256.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0003g0096	4	98	0.0408	670	c.-97 others(687): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATCTATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATAAATATATATATTTATATATATATTTATATTTATATAT ATTTATATTTATATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRM3_chr7_86638909_86869879	86655539	C C	CAAAAATT others(663): Show CAAAAATTAGTATGCCTAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACATAACGG AATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTATGCAGCC ATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGAACTGGA AGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAACACCGC ATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGGACACAG GGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGGGAGGAG GGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATACCTAGGT GATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTATGTAAC AAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAACAATGC ACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAAAGGTTT CTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0067 a0001c0005t0010g0067	1	211	0.0047	670	c.-14 others(691): Show c.-141+10685_-141+10686insCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATAC ATAACGGAATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTA TGCAGCCATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGG AACTGGAAGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAA ACACCGCATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATG GACACAGGGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTG GGAGGAGGGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATA CCTAGGTGATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCT ATGTAACAAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAA ACAATGCACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGA AAGGTTTCTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGTATGCCTAG	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(663): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATACATTATATATTATATAATATA TATTATATATTATACGTAATATATAATGTATATTATATATAATATATTAT GTATATAATGTATATTATATATAATATACATTATATATAATGTATATTAT ATGTAATATACACATTATATATAATGTATATTATATGTAATATACACATT ATATATAATGTATATTATATGTAATATACACATTATATATAATGTATATT ATATGTAATATACACATTATATATAATGTATATTATATGTAATATACACA TTATATATAATGTATATTATATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATAATGTATATTATATGTAATATATACA TTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0300 a0001c0002t0004g0300	1	309	0.0032	670	c.94- others(683): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATACATTATATATT ATATAATATATATTATATATTATACGTAATATATAATGTATATTATATAT AATATATTATGTATATAATGTATATTATATATAATATACATTATATATAA TGTATATTATATGTAATATACACATTATATATAATGTATATTATATGTAA TATACACATTATATATAATGTATATTATATGTAATATACACATTATATAT AATGTATATTATATGTAATATACACATTATATATAATGTATATTATATGT AATATACACATTATATATAATGTATATTATATGTAATATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTATATTATATGT AATATATACATTATATAATGTATATTATATAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(663): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATGTATGGAATATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATACA TATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTATGG AATATATATATATGGAATATATGTATGGAATATATATATGGAATATATGT ATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATATA TATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	300	0.0033	670	c.-19 others(681): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATACGTATGGAATATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATACATATGGAATATATATGTTTGGAATATATATATATGG AATATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTA TGGAATATATATATGGAATATATGTATGGAATATATATATGGAATATATG TATATGGAATATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79795224	T T	TGAGAGAC others(663): Show TGAGAGACACGGGACTGATTTACGGGATCACAGGGGAAGAAAAACACACA CGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAG GGGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGACT GATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGT CTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGAC TGATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACG TCTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACA CACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCAC AGGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGA CCGATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCAC GTCCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACAC ACACGAGGCCTGCCCACGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0297 a0001c0001t0001g0298	2	276	0.0072	670	c.-29 others(681): Show c.-2905_-2904insGAGAGACACGGGACTGATTTACGGGATCACAGGG GAAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGA TTTACGGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGTCCACATCT GAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACTT GAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAGG GGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCG ATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGTC CGAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACT TGAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAG GGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACC GATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGT CCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2713		chr18	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	188	0.0053	670	c.507 others(687): Show c.507-8293_507-8292insATGAGATACTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	188	0.0053	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	188	0.0053	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00673.hp2 HG00735.hp1 HG01168.hp2 HG01261.hp2 HG01928.hp2 HG02027.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02683.hp1 HG03017.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18959.hp1 NA18966.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19081.hp2 NA19087.hp1 NA19089.hp2 NA21309.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0014 a0024	a0001c0001 a0002c0002 a0011c0012 others(2): Show a0001c0001 a0002c0002 a0011c0012 a0014c0032 a0024c0031	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0011c0012t0002 a0014c0032t0001 a0024c0031t0001	a0001c0001t0001g0142 a0002c0002t0001g0161 a0002c0002t0001g0170 others(33): Show a0001c0001t0001g0142 a0002c0002t0001g0161 a0002c0002t0001g0170 a0002c0002t0001g0198 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0264 a0002c0002t0001g0278 a0002c0002t0001g0286 a0002c0002t0002g0130 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0157 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0253 a0002c0002t0002g0277 a0011c0012t0002g0217 a0014c0032t0001g0214 a0024c0031t0001g0094	36	223	0.1614	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(663): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02818.hp1 HG03239.hp1 others(5): Show HG02273.hp1 HG02818.hp1 HG03239.hp1 HG03239.hp2 NA18946.hp2 NA18992.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0146 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0005g0081 a0001c0001t0005g0088 a0001c0001t0005g0121 a0001c0001t0005g0127 a0001c0001t0005g0128	8	18	0.4444	670	c.52 others(681): Show c.5260_*5261insTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGAA TGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAG TGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTG CCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTC GGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTA CAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTC CAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAA CAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTAT CTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAA CCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGT TCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCC TAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCAT CTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(663): Show CAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0119 a0001c0001t0012g0119	1	11	0.0909	670	c.52 others(681): Show c.5260_*5261insTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGA ATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAA GTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGT GCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTT CGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCT ACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTT CCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGA ACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTA TCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATA ACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAG TTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTC CTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCA TCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAA GTACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	194	0.0052	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0372 a0002c0002t0001g0372	1	194	0.0052	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAA AAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18953.hp2 NA18956.hp1 others(5): Show HG02083.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18993.hp1 NA19000.hp1 NA19005.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0015 a0002c0003t0003 a0002c0003t0006 a0002c0003t0015	a0002c0003t0003g0124 a0002c0003t0003g0157 a0002c0003t0003g0172 others(5): Show a0002c0003t0003g0124 a0002c0003t0003g0157 a0002c0003t0003g0172 a0002c0003t0003g0215 a0002c0003t0006g0044 a0002c0003t0006g0046 a0002c0003t0006g0054 a0002c0003t0015g0064	8	201	0.0398	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGTTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0047 a0002c0002t0009g0047	1	194	0.0052	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTC TTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGA AAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATT TTTAGTAGAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGAACATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(663): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGA GGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAG GGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA GGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	8	0.1250	670	c.250 others(685): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCC CCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCT CCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(663): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	4	0.2500	670	c.114 others(689): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCC TCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(663): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGG AAGGCGGGGGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGG TGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGG GAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGG AGGATGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGG GAGGGACAGTGGGGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGG TGGAGAGCAGGGAGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGA GGGAGGGAGAGTGGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGG GAGAGTGGGGAAGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGA GGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	106	0.0094	670	c.321 others(689): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCCGCCTTCCTCC CTCCCCCCCGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCT CCCTCCATCCTCCCTGCCCTCCACCCTCCCTCCCCACTTCCCCCCCTCCA CCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCT GTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTC CACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886816	T T	TTTCGGAT others(663): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0066 a0001c0003t0012g0066	1	216	0.0046	670	c.129 others(687): Show c.129-5957_129-5956insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(663): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCTGT CTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCT GAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCTGAGTCTGA AGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCC TGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCG AGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG01243.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0108 a0002c0002t0107 a0001c0001t0108 a0002c0002t0107	a0001c0001t0108g0113 a0002c0002t0107g0130 a0001c0001t0108g0113 a0002c0002t0107g0130	2	263	0.0076	670	c.18 others(683): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAG ATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGT GGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGG TTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTT CCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCC AGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAG TCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		979		chr22	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(663): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTA TTTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTA TTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18950.hp1 NA18999.hp1 NA18945.hp2 NA18950.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0019 a0001c0001 a0001c0007 a0001c0019	a0001c0001t0003 a0001c0007t0002 a0001c0019t0001 a0001c0001t0003 a0001c0007t0002 a0001c0019t0001	a0001c0001t0003g0063 a0001c0007t0002g0084 a0001c0019t0001g0067 a0001c0001t0003g0063 a0001c0007t0002g0084 a0001c0019t0001g0067	3	27	0.1111	670	c.862 others(687): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATT ATATAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(663): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCC TTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	10	0.1000	670	c.139 others(689): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTG TGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCAC CTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCA CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(663): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGGCCACGTGGGGAGGA GGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTT GGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGG GGGCCGTGAGGAGAGGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGG GGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAG GAGGCGCCGCGTGGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCG TGGGGAGGAGGGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAG GGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGCGCCGTGTGG GGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGG CCGCGAGGGGAGGAGGGGGCCCGCGTGGGGAGGAGGGGGGGCCGCGTGGG GAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCT GTGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	3	0.3333	670	c.159 others(687): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACACAGCCCCC TCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGC GGCCCCCCCTCCTCCCCACGCGGGCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACACG GCGCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCC CCACGCGCCCCCCCTCCTCCCCACGCCTTCCCCCTCCTCCCCACGGGGCC CCCTCCTCTCCTCACGGCCCCCTCCTCCCCCACGCGGCGCCTCCTCCCCA CACGCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCC TCCCCTCGCGGCCCCCCTCCTCCCCACGCGCCCCCCCTCCTCCCCACGCC TTCCCCTCCTCCCCACGGGGCCCCCCTCCTCTCCTCACGGCCCCCCTCCT CCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCAAGCCTT CCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCCTCCTCCC CACGTGGCCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCC GCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACCCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00741.hp1 others(16): Show HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01175.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG02040.hp1 HG02683.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA20905.hp1 NA20905.hp2	a0001 a0009 a0010 others(7): Show a0001 a0009 a0010 a0013 a0018 a0023 a0039 a0042 a0044 a0073	a0001c0002 a0001c0003 a0001c0005 others(10): Show a0001c0002 a0001c0003 a0001c0005 a0009c0069 a0009c0078 a0010c0016 a0013c0072 a0018c0079 a0023c0080 a0039c0084 a0042c0071 a0044c0077 a0073c0083	a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 others(10): Show a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 a0009c0069t0004 a0009c0078t0003 a0010c0016t0001 a0013c0072t0007 a0018c0079t0003 a0023c0080t0001 a0039c0084t0004 a0042c0071t0001 a0044c0077t0005 a0073c0083t0002	a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 others(10): Show a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 a0009c0069t0004g0000 a0009c0078t0003g0000 a0010c0016t0001g0000 a0013c0072t0007g0000 a0018c0079t0003g0000 a0023c0080t0001g0000 a0039c0084t0004g0000 a0042c0071t0001g0000 a0044c0077t0005g0000 a0073c0083t0002g0000	19	105	0.1810	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACCCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAGAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0011 a0011c0012t0011	a0011c0012t0011g0000 a0011c0012t0011g0000	1	87	0.0115	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAGAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACTCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG02015.hp1 others(7): Show HG01071.hp2 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 NA18747.hp2 NA18966.hp2 NA18979.hp1	a0001 a0007 a0020 others(2): Show a0001 a0007 a0020 a0021 a0058	a0001c0002 a0001c0005 a0007c0009 others(3): Show a0001c0002 a0001c0005 a0007c0009 a0020c0076 a0021c0082 a0058c0010	a0001c0002t0003 a0001c0005t0003 a0007c0009t0001 others(3): Show a0001c0002t0003 a0001c0005t0003 a0007c0009t0001 a0020c0076t0001 a0021c0082t0002 a0058c0010t0003	a0001c0002t0003g0000 a0001c0005t0003g0000 a0007c0009t0001g0000 others(3): Show a0001c0002t0003g0000 a0001c0005t0003g0000 a0007c0009t0001g0000 a0020c0076t0001g0000 a0021c0082t0002g0000 a0058c0010t0003g0000	10	96	0.1042	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RPH3AL_chr17_207389_357807	254613	C C	CGTGACTA others(663): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGAACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTTACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTG TCCTTTTCCGTCCCTAGGAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	99	0.0101	670	c.439 others(687): Show c.439-7329_439-7328insATTCCTAGGGACGGAAAAGGACAGACAC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTAACGTTCCTAGG GATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGATGGAACAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTTCGTAGGGTAGTCACATTCCTAGGGATGGAACAGGACAGA CGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255286	G G	GACTACCC others(663): Show GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTTACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACG TGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTT TTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCT GCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAC GTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTTACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	132	0.0076	670	c.439 others(687): Show c.439-8002_439-8001insAACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTAACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTAACGTTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTA GGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACA GACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCT AGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTAACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255886	T T	TGTGACTA others(663): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATAAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCATCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	101	0.0099	670	c.439 others(687): Show c.439-8602_439-8601insGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGATG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GATGGAAAAGGACAGACGCCGTGCAGCTCCCCTTATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256422	T T	TGTGACTA others(663): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTATCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTAT CCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	74	0.0135	670	c.439 others(687): Show c.439-9138_439-9137insGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGATAGACG CCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGATAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGACAGAACAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257830	G G	GTGACTAC others(663): Show GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGGGACTACCCTACGTACTTCCTATAAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACTACCCTACGT ACTTCCTATGAGGTGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGGGACTACCCTACGTACTTCCTATAAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGGGACTACCCTACG TACTTCCTATAAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0107	1	124	0.0081	670	c.439 others(689): Show c.439-10546_439-10545insTATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAG GGTAGTCCCATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAGGGTAGTCCCATTCCTA GGGACGGAAAAGGACAGACGCCGTGCGGCTCACCTCATAGGAAGTACGTA GGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCC CTTATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGACGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCT AGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477256	C C	CCCCCTCC others(663): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA CTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCC CTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCC ACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCC ACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCT GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCC ACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACAC CCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACC CCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCC CACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCG GGGGTGCCCCACACCCTCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00639.hp2 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	2	394	0.0051	670	c.727 others(683): Show c.727+34_727+35insTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGG GTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGT GTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCAC CCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG AGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAG AGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGG GGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(663): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	149	0.0067	670	c.-12 others(689): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGC ACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar

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