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
KIAA1755_chr20_38205503_38265735	38206028	C C	CGTAGTAG others(852): Show CGTAGTAGAGAGATGGATTTCTTAGCAATACTCACTTCAATAAGAGGATC ACTTTATATGAGTTCTGTATTGACTTACCCTGATCACATACTCACATATC ATCGCACTTTGTACTACTAGTAAACCTTTTTCTCATTCTTGCAAACCTGA TGCCCTTGAACTTACAGTTCAGTGCTTATTTTGTATTAAATTTATATAAT TTCCTGTTTGATATTGTGCCTTTTCTCGTGTTTGTATACCTTTGATTGTT GTCTAATTATTTAATCTGTCTTTACTTGTACGCCTTTGTGTGTTAATTGT TTCTTTTGATTAATTGTTCCTTTTTTGATCTTGTTGTTTGATTTATTCTA GTGTATATGCTCCCTGTAAATATCCTTTTTCTTGTGACTCTGTTTACTGT TTTGCTTGATATTTTGTACTGTTATTCTTGTATTTTTTAATTATTGTTTT TGCTTTATTTCTGTATTTCCCTATGGTCATGCTTCAATTTATTTCTACTA CTTGTCTATGTACATCTCGTAGTTACTGTCCTACTCCTTAGAATTCTTAC TTTTGTTTTATTTCTCTATTGTTACCCTTAAATTTTTCATCTTCTTAACT TGCTAATCTACCCTTACTTCCTTTATGTAATTCTTTTTGATCCTCGTTTT TGTCATTTTGTAATGAATTGCTTTCCCTGTCATTTTATACTTTCTGTATA TGTGTTTCTTTTTCTTTGTGTCTTTCCTAGTATAGCTTTGTTTTGTCTTT GTTGCTCCTTTTAGCCTTGTTTGTTAGTTGTTGATTCGTTTTGATCTATT TCTAATTTTCTTCTGTTTGATTCTTTATGTTTTGTTATGTCTTGTTTTGT GTTGTAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0008 a0009c0015t0008	a0009c0015t0008g0187 a0009c0015t0008g0187	1	356	0.0028	859	c.70 others(870): Show c.7013_*7014insATACTACAACACAAAACAAGACATAACAAAACAT AAAGAATCAAACAGAAGAAAATTAGAAATAGATCAAAACGAATCAACAAC TAACAAACAAGGCTAAAAGGAGCAACAAAGACAAAACAAAGCTATACTAG GAAAGACACAAAGAAAAAGAAACACATATACAGAAAGTATAAAATGACAG GGAAAGCAATTCATTACAAAATGACAAAAACGAGGATCAAAAAGAATTAC ATAAAGGAAGTAAGGGTAGATTAGCAAGTTAAGAAGATGAAAAATTTAAG GGTAACAATAGAGAAATAAAACAAAAGTAAGAATTCTAAGGAGTAGGACA GTAACTACGAGATGTACATAGACAAGTAGTAGAAATAAATTGAAGCATGA CCATAGGGAAATACAGAAATAAAGCAAAAACAATAATTAAAAAATACAAG AATAACAGTACAAAATATCAAGCAAAACAGTAAACAGAGTCACAAGAAAA AGGATATTTACAGGGAGCATATACACTAGAATAAATCAAACAACAAGATC AAAAAAGGAACAATTAATCAAAAGAAACAATTAACACACAAAGGCGTACA AGTAAAGACAGATTAAATAATTAGACAACAATCAAAGGTATACAAACACG AGAAAAGGCACAATATCAAACAGGAAATTATATAAATTTAATACAAAATA AGCACTGAACTGTAAGTTCAAGGGCATCAGGTTTGCAAGAATGAGAAAAA GGTTTACTAGTAGTACAAAGTGCGATGATATGTGAGTATGTGATCAGGGT AAGTCAATACAGAACTCATATAAAGTGATCCTCTTATTGAAGTGAGTATT GCTAAGAAATCCATCTCTCTACTAC	KIAA1755	ENSG00000149633.12	transcript	ENST00000279024.9	protein_coding		4474		chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(852): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGATGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGA TGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTGGGGGGTGGGG GTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGAC GGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGAT GGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGG GGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTG GGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTA ATGACGGTGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	31	0.0323	859	c.956 others(876): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATC ATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCCACCGTCA TCACCCCCACCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCA TCACCCCCACCCCCACCATCATCATCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATC ACCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATC ATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCC CACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(852): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATATTTTTATATA TATTTATATATATTTTTATATATATTTATATATATTTATATATAGTTATA TATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATG TATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTTATA TATATATATTTTTATATATATAGTTATATATATATATTTTTATATATATA GTTATATATATATATTTTTATATATATAGTTATATATATATTTATATATA TAGTTATATATTTATATATATTTATATATATTTATATATATATTTATATA TTTATTTATATATATTTATATATGTATTTATATATATTTATATATATTTA TATGTATTTATATATATTTATATATATTTATATATATATATATAAATATA TTTATATATATAAATATAAATATTTATATATATTTATATATATTTATATA TATATTTATGTATATTTATATATATTTATATATATATTTATGTATATTTA TATATGTATT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	80	0.0125	859	c.125 others(876): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATATTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATTTATATATATAGTTATATATTTATATATATTTATATATATT TATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATA TATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATA TATATATATATAAATATATTTATATATATAAATATAAATATTTATATATA TTTATATATATTTATATATATATTTATGTATATTTATATATATTTATATA TATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(852): Show CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACCACACCCATGACCACACCCACACTTACA TCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACC CACGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCA CCCACACTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACC CACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCG CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACC CACACTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCA CCCTTACATCTACCTCCACACCCACGCTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	242	0.0041	859	c.129 others(878): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACCACACCCA TGACCACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACG CTTACATCTACCTCCACACCCACGCTTACACCCACGCTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTACC TCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCGCGCT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCT TACATCTACCTCCACACCCGCACTTACACCCACGCTTACATCTACCTCCA CACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTC CACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACGCTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(852): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTC CTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCT CTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01496.hp1 HG01891.hp2 others(1): Show HG00323.hp1 HG01496.hp1 HG01891.hp2 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0125 a0002c0002t0001g0014	4	128	0.0313	859	c.-49 others(870): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICAL3_chr22_17782649_18029561	17876928	G G	GGGAAGTT others(852): Show GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGGTTAGGGTTAGGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA AGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA GGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	220	0.0045	859	c.224 others(878): Show c.2242-4906_2242-4905insATAACCTCCCTAACCTCCCTAACCTC CATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCCTAACCC TAACCCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(852): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0071 a0020c0034t0001g0071	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCCTCCTCCTCTTTTCCCTCCTCCCCAT CCTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTT TCCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCC CCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCC TTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(852): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGA GGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(852): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGAGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGA GGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCTCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(852): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGA GGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(852): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGGAGGAGGGA GAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGA GGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGGA others(852): Show GGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGGAAAAGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGG AGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGG AGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGG GAGGAGGCAGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGG AGGAGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGA GGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGG AGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGA GGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGA GGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGG AGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	8	0.1250	859	c.641 others(874): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCTGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCC TCCTCCCCCCTTCTCTCACTCCTCCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(852): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGG AAAGGGGTGAGGGGAAGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGG GAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGAAGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGA GAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	8	0.1250	859	c.250 others(874): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCC CGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTC CCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	82025	C C	CGCGCTGA others(852): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	431	0.0023	859	c.301 others(876): Show c.301-1027_301-1026insGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGG CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATA CTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCC TACCTCCGGGAAGGCCTCCTGAATGCTCCCT	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(852): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATAT ATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAA AATAAGATTTTATATATATATAAGATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TATAAAATCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	210	0.0048	859	c.-5+ others(874): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATCTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATA TATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAG ATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAA ATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(852): Show AATATATATATTTAAATAAAGTATATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATAT ATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATATAAATATATAT ATTTAAATATAAGTATACATATGAATATATATATTTAAATATAAGTATAC ATATAAATATATATATTTAAATATAAGTATACATATAAATATATATATTT AAATATAAGTATACATATAAATATATATATTTAAATATAAGTATACATAT AAATATATATATTTAAATATAAGTATACATATAAATATATATATTTAAAT ATAAGTATACATATAAATATATATATTTAAATATAAGTATACATATAAAT ATATATATTTATATATAAGTATACATATAAATATATATATTTATATATAA GTATACATATAAATATATATATTTATATATAAGTATACATATAAATATAT ATATTTATATATAAGTATACATATAAATATATATATTTACATATAAGTAT ACATATAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0010 a0004c0024t0010	a0004c0024t0010g0043 a0004c0024t0010g0043	1	156	0.0064	859	c.358 others(876): Show c.358+3191_358+3192insATTTAAATAAAGTATATATAAATATATA TATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATG TATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATT TCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAG TATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATA TATAAATATATATATTTAAATATAAGTATACATATGAATATATATATTTA AATATAAGTATACATATAAATATATATATTTAAATATAAGTATACATATA AATATATATATTTAAATATAAGTATACATATAAATATATATATTTAAATA TAAGTATACATATAAATATATATATTTAAATATAAGTATACATATAAATA TATATATTTAAATATAAGTATACATATAAATATATATATTTAAATATAAG TATACATATAAATATATATATTTATATATAAGTATACATATAAATATATA TATTTATATATAAGTATACATATAAATATATATATTTATATATAAGTATA CATATAAATATATATATTTATATATAAGTATACATATAAATATATATATT TACATATAAGTATACATATAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241807919	T T	TGCAGGCC others(852): Show TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0018 a0002c0003t0002g0018	2	228	0.0088	859	c.-13 others(870): Show c.-1359_-1358insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1273		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132150572	G G	GCCGCCCT others(852): Show GCCGCCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCCTCGCTCACACCACACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACAACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCACTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCCTAATCCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACAACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCACACCCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACCACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACACCCACACCCCCTAATCCCCTCGG TGAGTGCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0001 a0004c0041t0001	a0004c0041t0001g0002 a0004c0041t0001g0002	1	290	0.0034	859	c.902 others(874): Show c.902-404_902-403insCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCCTCGCTCACACCACACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCACTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCCTAATCCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTC ACACCACAACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC CACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACCACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACACCCACACCC CCTAATCCCCTCGGTGAGTGCGGCCCGCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136528392	T T	TGGGGGGT others(852): Show TGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGG GGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGG GGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGA CAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGCGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGG GATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0135 a0001c0004t0005g0135	1	319	0.0031	859	c.141 others(876): Show c.141-4414_141-4413insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCCCACTGTCCCTG CCCATCCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCA CCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCAT CCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCC CCCCCGCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCC ACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCC ATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCC CCCACTGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCAC CCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGC CCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCCGCACCGTCCCTGCC CATCCCCCCCCACTGTCCCTGCCCACCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	82025	C C	CGCGCTGA others(852): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	339	0.0029	859	c.46 others(870): Show c.4679_*4680insAGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGTATTCAGGAGGC CTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGTAT TCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCCG GGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTC AGCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGA AGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGT GGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGG CCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATT CAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGG GAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCA GCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAA GGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTG GGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAG GGTGGTGGGAAGAAGGGGTCAGCGC	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3360		chr16	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(852): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01258.hp2 others(4): Show HG00741.hp1 HG01106.hp1 HG01258.hp2 HG02698.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0002 a0001c0004t0008g0174 a0001c0004t0008g0175 others(3): Show a0001c0004t0008g0002 a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0176 a0001c0004t0008g0177 a0001c0004t0008g0178	7	263	0.0266	859	c.-14 others(876): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(852): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACTTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0180 a0001c0004t0019g0180	1	257	0.0039	859	c.-14 others(876): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACTTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(852): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACCTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0253 a0001c0003t0002g0253	1	290	0.0034	859	c.-14 others(876): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACCTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(852): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00735.hp2 others(31): Show HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01358.hp2 HG02155.hp2 HG02165.hp1 HG02698.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18979.hp2 NA18984.hp2 NA18991.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19068.hp2 NA19074.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039	a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 others(31): Show a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0017g0305 a0001c0001t0017g0341 a0001c0001t0017g0342 a0001c0001t0023g0329 a0001c0001t0023g0330 a0001c0001t0025g0310 a0001c0001t0039g0317	34	323	0.1053	859	c.-14 others(876): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(852): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG01168.hp1 others(28): Show HG00423.hp1 HG01099.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01928.hp1 HG02080.hp2 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03579.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18954.hp1 NA18966.hp1 NA18983.hp1 NA19001.hp1 NA19012.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0008	a0001c0001t0002 a0001c0003t0002 a0001c0003t0020 others(7): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0020 a0001c0003t0021 a0001c0003t0030 a0001c0003t0032 a0001c0006t0009 a0001c0010t0022 a0001c0010t0033 a0002c0008t0002	a0001c0001t0002g0293 a0001c0003t0002g0244 a0001c0003t0002g0245 others(28): Show a0001c0001t0002g0293 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0278 a0001c0003t0002g0279 a0001c0003t0020g0295 a0001c0003t0021g0260 a0001c0003t0030g0272 a0001c0003t0032g0269 a0001c0006t0009g0248 a0001c0006t0009g0249 a0001c0006t0009g0250 a0001c0010t0022g0258 a0001c0010t0033g0259 a0002c0008t0002g0296 a0002c0008t0002g0297	31	320	0.0969	859	c.-14 others(876): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(852): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0283 a0001c0003t0002g0283	1	290	0.0034	859	c.-14 others(876): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGGTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(852): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGA GGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG GGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGA AGGGGCAAGAGAGAGGGCGAGAAAGAGGGCGGGTGAGAGAGGGCGAGTGA GAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGA GAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGG GCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGG GTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGA GAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGA GAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGA GGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0022 a0019c0020t0001g0023 a0019c0020t0001g0022 a0019c0020t0001g0023	2	25	0.0800	859	c.371 others(876): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCT GCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCC TCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCAC CTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTTTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTT CTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCT CTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCC TCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(852): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGA GGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGAGGAGGGGG GGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGA AGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGA GAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGA GAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGG GCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGG GTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGA GAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGA GAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGA GGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0005 a0007c0008t0001g0005	1	24	0.0417	859	c.371 others(876): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCT GCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCC TCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCAC CTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCTCCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTT CTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCT CTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCC TCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(852): Show TCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCC ATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCAC CTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTT CCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTG CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCC CCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCC CTCACCTCCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCA CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG03704.hp2 HG00323.hp1 HG01258.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0070 a0001c0002t0005g0074 a0001c0002t0005g0082 a0001c0002t0005g0070 a0001c0002t0005g0074 a0001c0002t0005g0082	3	197	0.0152	859	c.139 others(878): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCC TCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCT CACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTG TACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCA CCTCCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTA CCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCC CATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCTCACCTCCTGTACCCCCTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(852): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAAC CCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCC ACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACC CACCCATCTACCTTTCTCTCCACCTATTCACCCATCCATCCACCCACCCA CCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATC CACCTTCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCTACCTT TCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTACCTTCCTCTC CATCTATTCAACTATCCACCCACCCACCCACCTATCCACTTTCCCCTCCA TCTATTCAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	2	0.5000	859	c.438 others(876): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGATG GGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTGGGTGGATGGGTGAA TAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGTGGGTGGGTGGTTGA ATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTGGTGGGTGGGAGGTT GAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAG ATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAG GGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAG GTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGAT GGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGG GTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RGS10_chr10_119494817_119547719	119547326	A A	AATGTCAC others(852): Show AATGTCACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCC TCCACCTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCA GTAGCTGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTAT TTATTTATTTATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGG TCTGTCTCCCTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTG ATCCTCCCTCCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCAC TATGCATGGCTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGA GACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAAT CTCGGCCCATCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCT CAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTA ATTTTGTATTTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGG TCTCAAACTCCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGG TTGGGATTATAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAA TACAATTTTTTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATT TTTTTGAGACCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACA ATCTTGGCTTACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGC TAAATTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	3	0.3333	859	c.-46 others(870): Show c.-4689_-4688insCAAAAATTTAGCCAGGTGTGGTGGCACGCAACTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGG AGATGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGC GACAGAGTGAGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAA TAAAGTTTACTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGAC GTGGTGGCTCAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACG GATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAAC CCTGTCTTTACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCG GGAGGCAGAGGTTGCGATGGGCCGAGATTGCACCATTGCAGCACTCCAGC CTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAA AAACTTAAAAAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGC TACTTAGAAGGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTT GAGCCTGGGCAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATAAATAAAATTAGCTAGGCGTGG TAGTGCACACCTGTGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAG AGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCAT CATTGCATTCCAGCCTGGGTGACAT	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4608		chr10	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(852): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	199	0.0050	859	c.-26 others(878): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTGTAAAGGA CATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTA AATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAG TTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCAC AACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTA TTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACT CCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTA CAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTTT TTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTC TCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTC AGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACC CCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATT GGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAG CACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACA TGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCC CAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCAT GTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(852): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCATTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGCTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19077.hp2 NA18939.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	2	174	0.0115	859	c.135 others(876): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCATTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGCTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(852): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCATTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00597.hp1 others(56): Show HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02148.hp1 HG02300.hp2 HG02523.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03942.hp1 HG04204.hp2 NA18612.hp1 NA18951.hp1 NA18952.hp1 NA18963.hp2 NA18973.hp1 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19030.hp2 NA19054.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0015 a0001c0018 a0002c0004 a0003c0005 a0007c0009 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0001c0015t0001 a0001c0018t0002 a0002c0004t0001 a0003c0005t0001 a0007c0009t0001 a0011c0017t0002	a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0118 others(34): Show a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0188 a0001c0002t0001g0007 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0002g0009 a0001c0003t0001g0007 a0001c0003t0001g0040 a0001c0003t0002g0009 a0001c0003t0002g0023 a0001c0003t0002g0047 a0001c0003t0002g0051 a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0010t0001g0112 a0001c0015t0001g0025 a0001c0018t0002g0009 a0002c0004t0001g0034 a0002c0004t0001g0095 a0002c0004t0001g0096 a0003c0005t0001g0055 a0007c0009t0001g0038 a0011c0017t0002g0166	59	231	0.2554	859	c.135 others(876): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCATTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(852): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0176 a0004c0011t0002g0176	1	173	0.0058	859	c.135 others(876): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(852): Show CCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0080 a0004c0080	a0004c0080t0014 a0004c0080t0014	a0004c0080t0014g0078 a0004c0080t0014g0078	1	67	0.0149	859	c.199 others(878): Show c.1994+2656_1994+2657insCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(852): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGA GGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGA GGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGG GAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGG CAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGG GAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0065 a0002c0011t0005g0065	1	2	0.5000	859	c.227 others(878): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCTTGCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTC CCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
TM4SF1_chr3_149364022_149382649	149380622	G G	GCCAGCCG others(852): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCTTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCTGTCCGGGAGGG AGGTGGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGTGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAG GGAGGCGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCACCTC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGAGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCC CCCCGCCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	256	0.0039	859	c.-30 others(870): Show c.-3076_-3075insTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG ACGGGGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGG GGGCTGACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGAGGTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGTGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAAGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCA CCTCCCTCCCGGACGGGGCGGCTGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2974		chr3	TogoVar
TXNDC16_chr14_52425596_52557505	52530484	A A	ATAATATA others(852): Show ATAATATAATATATATTATTATATATAATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAATATATATT ATTATATATAATATTATATAATAATATAATATATATTATTATATATTATT ATATATAATTATATATAATAAAATATATATTATTATATATTATTATATAT AATAATATAATATATATTATTATATATTATTATATATAATTATATATAAT AAAATATATATTATTATATATTATTATATATAATAATATAATATATATTA TTATATTATTATATATAATAATATAATATATATTATTATATATTATTATA TATAATAATATATATATTATTATATATAATTATATATAATAATATATATT ATATTATTATATATAATTATATATAATAATATATATATTATTATATATAA TTATATATAATAATATATATATTATTATATATAATTATATATAATAATAT ATATATTATTATATATAATTATATATAATAATATAATATATATTATATAA TTATATATAATATATAATATATATTATATTATTATATATAATTATATATA ATTATATATAATAATATAATATATATTATATATTATATATAATATATAAT ATATATTATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAATATATAAT TATTATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0133 a0001c0001t0017g0133	1	231	0.0043	859	c.392 others(876): Show c.392+6234_392+6235insATATATAATAATTATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATAATATATATTATATATTATATATAA TATATAATATATATTATATTATTATATATAATTATATATAATTATATATA ATAATATAATATATATTATATATTATATATAATTATATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATATTATTATATATAATT ATATATAATAATATATATATTATTATATATAATTATATATAATAATATAT ATATTATTATATATAATTATATATAATAATATAATATATATTATTATATA TAATTATATATAATAATATATATATTATTATATATAATAATATATAATAA TATATATTATATTATTATATATAATAATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTTTATTATATATAATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTTTATTATATATAATTATATATAATAATATATAATAATAT ATATTATATTATTATATAATATTATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATTATATATAATAATATATATTATATTA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(852): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAATA ATATATATTATTATATGTTATTATATATAATAATATATATTATTATATGT TATTATATATAATAATATAATATATATTATTATATGTTATTATATATAAT AACATATTATATATTATGTTATTATATATAATAACATAATATATATTATA TGTTATTATATATAATAACATAATATATATTATTATATGTTATTATATAT AATAACATAATATATATTATTATATGTTATTATATATAATAACATAATAT ATATTATTATATGTTATTATATATAATAACATAATATATATTATTATATG TTATTATATATAATAACATAATATATATTATTATATGTTATTATATATAA TAACATAATATATATTATTATATGTTATTATATATAATAATATAATATAT ATTATTATATGTTATTATATATAATAATATATATTATATTATTATATGTT ATTATATATAATAATATAATATATATTATTATATGTTATTATATATAATA TATATTATATTATATATAATAATATAATATATATTATATTATTATATATA ATAATATAATATATATTATTATATATTATATATTATTATATATAATATAT ATATAATTATATTATTATATATTATTATATATAATATATATAATTATATA TATATTATATATATTATATATAATAATAATATATATAATTATATATATTA TATATAATAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0198 a0002c0003t0002g0198	1	99	0.0101	859	c.392 others(876): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATTATATATAATAACATATAATAATATATATTATA TTATTATATATAATAACATATAATAATATATATTATATTATTATATATAA TAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(852): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTC CTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCT CTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02083.hp2 HG01496.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0089 a0001c0001t0001g0013 a0001c0001t0002g0089	2	3	0.6667	859	c.53 others(870): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(852): Show TCCCCCTTCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	100	0.0100	859	c.-10 others(876): Show c.-10-3193_-10-3192insCCCCCTTCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCTCCCTTCCCCCCTTTCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CTCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975373	A A	AAATATTT others(853): Show AAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATAT TTATAGATAAATATATAAATATATATATATTTATATATTTATAGATAAAT ATATAAATATATATATATTTTTATATTTATAGATAAATATATAAATATAT AAATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAG ATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTAT ATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGAT AAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAAT ATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTT ATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATAT ATCAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAAT ATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAA ATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAG ATAAATATATC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0171 a0001c0002t0004g0171	1	268	0.0037	860	c.130 others(879): Show c.1308+1203_1308+1204insGATATATTTATCTATAAATATAAAAA TATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATA AATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATA TTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATA TATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAA AATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTA TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCTATA AATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATA TTTATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAA TATTTATATATTTATATATTTATCTATAAATATTTATATATTTATATATT TATCTATAAATATAAAAATATATATATATTTATATATTTATCTATAAATA TATAAATATATATATATTTATATATTTATCTATAAATATATAAATATTTA TATATATATATTTATCTATAAATATATAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(853): Show CATATACGTATACGTGTACACACATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTA CACACATATACGTATACGTGTACACACATATACACGTATACGTATACGTG TACACACATATACACGTATATACGTATACGTGTACACACATATACACGTA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACA CACATATATACACGTATATACGTATACGTGTACACACATATATATACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACGTA TATACGTATACGTGTACACACGTATATACGTATACGTGTACACACGTATA TACGTATACGTGTACACACGTATATACGTATACGTGTACACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA CATACACGTATATACGTATACGTGTACACACATATACCTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	112	0.0089	860	c.48- others(877): Show c.48-70722_48-70721insGTATACGTGTACACACATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTAC ACACATATACGTATACGTGTACACACATATACGTATACGTGTACACACAT ATACGTATACGTGTACACACATATACACGTATACGTATACGTGTACACAC ATATACACGTATATACGTATACGTGTACACACATATACACGTATATACGT ATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATAT ATACACGTATATACGTATACGTGTACACACATATATATACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACGTATATACGT ATACGTGTACACACGTATATACGTATACGTGTACACACGTATATACGTAT ACGTGTACACACGTATATACGTATACGTGTACACACGTATATACGTATAC GTGTACACACACATACACGTATATACGTATACGTGTACACACACATACAC GTATATACGTATACGTGTACACACATATACCTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATATACGTATACGTGTACACACATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144531192	G G	GAGCAGCA others(853): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCAGCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18962.hp1 HG00408.hp2 NA18962.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0009 a0003c0009t0001 a0001c0003t0009 a0003c0009t0001	a0001c0003t0009g0003 a0003c0009t0001g0007 a0001c0003t0009g0003 a0003c0009t0001g0007	2	233	0.0086	860	c.298 others(877): Show c.2981-322_2981-321insTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(853): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATACATATATATATATATATATATATATATATTTAAA ATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAG CACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGA CCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	27	0.0370	860	c.94+ others(875): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATGTATGTATTTTTTTTTTTTTTTTAAATATATATTCT TTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCA CCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCC TCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCT AATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCAT GTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCT CGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCG ATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGT AATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTAT TTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGG TTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCT CCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(853): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATTTAAA ATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAG CACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGA CCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01074.hp1 others(19): Show HG00673.hp1 HG00735.hp1 HG01074.hp1 HG01257.hp1 HG02015.hp1 HG02080.hp1 HG02083.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp2 HG02738.hp1 HG03654.hp1 HG03831.hp2 NA18964.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18999.hp2 NA19003.hp1 NA19055.hp1 NA19060.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0117 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0009g0201	22	48	0.4583	860	c.94+ others(875): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATATATTCT TTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCA CCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCC TCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCT AATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCAT GTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCT CGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCG ATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGT AATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTAT TTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGG TTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCT CCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(853): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAATAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATTTAAA ATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAG CACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGA CCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0200 a0001c0001t0009g0200	1	27	0.0370	860	c.94+ others(875): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATATATTCT TTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCA CCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCC TCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCT AATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCAT GTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCT CGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCG ATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGT AATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTAT TTTTATTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGG TTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCT CCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ATP10A_chr15_25673712_25868327	25757956	C C	CCACCTGC others(853): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCAC CTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0032 a0032	a0032c0035 a0032c0035	a0032c0035t0005 a0032c0035t0005	a0032c0035t0005g0216 a0032c0035t0005g0216	1	251	0.0040	860	c.655 others(879): Show c.655-21816_655-21815insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGT GGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGT TAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(853): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAG GGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	8	0.1250	860	c.-70 others(869): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar

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