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
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(613): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGTTTGGATGG ATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATG GATAGGTGGATGAATGGATGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0061 a0002c0002t0004g0061	1	74	0.0135	620	c.199 others(637): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGTTTGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGC GGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(613): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTATAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATG GATAGGTGGATGAATGGATGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02109.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0091 a0001c0001t0011g0099 a0001c0001t0001g0091 a0001c0001t0011g0099	2	75	0.0267	620	c.199 others(637): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTATATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGC GGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(613): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACAACAGACCACACATACACACACCACACACCACA CACACCATACACACACACCACACATACCACACACACCACACACACAACCA CACACACACACCACACACACAACACACAACAGACCACACATACACACACC ACAAACACAACCACACACACCACACCATACACACACACCATACACGCACC ACACACACACCACATACACACTTCACACACACCACACACCACACAAATCA CACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0281 a0001c0048t0001g0281	1	224	0.0045	620	c.203 others(637): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGT GTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTG TGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGTATAGTGTGT GTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCG TGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTG ATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTG GTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGT GTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGTGTGTGTG GTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTGGTGTGTG AGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(613): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCC CCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	5	0.2000	620	c.-41 others(635): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCC CCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(613): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGG AGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAG GAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAA GAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGA GGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAA GGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01346.hp1 others(1): Show HG00140.hp2 HG00642.hp1 HG01346.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0001t0012 a0001c0007t0002 others(1): Show a0001c0001t0009 a0001c0001t0012 a0001c0007t0002 a0001c0007t0008	a0001c0001t0009g0013 a0001c0001t0012g0121 a0001c0007t0002g0113 others(1): Show a0001c0001t0009g0013 a0001c0001t0012g0121 a0001c0007t0002g0113 a0001c0007t0008g0112	4	8	0.5000	620	c.-46 others(631): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCTTCCCTCCTC CTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCT CCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATT CTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCT TCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(613): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	296	0.0034	620	c.-22 others(631): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(613): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTT TATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTA TACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	209	0.0048	620	c.125 others(637): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTTTATATATATTTATATGTATTTATATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATATAT ATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMLN_chr3_197955217_198048720	198004765	A A	ACATCTAT others(613): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	202	0.0050	620	c.131 others(639): Show c.1319+1743_1319+1744insCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCA TCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATAT CATCTATACAGATACATATCATACGTAGTAAGTTTGCCATCTATCTATAT ATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCATCTATCTAT ATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATAT ATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCATCTATCTAT ATATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCATCTATCT ATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTAT CTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GAGGAACA others(613): Show GAGGAACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACG GGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACAC GGGGGGAACAGCGACACGGGGGGGACAGCGACACGGAGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGG GGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	249	0.0040	620	c.20 others(631): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC TCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTCCC CCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCC CCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(613): Show GGAGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGG AGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGA GGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGGAGAGGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGAGAGGGG GAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGA GAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGG GGGAGGGGGGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAG AGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGG GGGGAGGGGGGAGGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGG AGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	12	0.0833	620	c.525 others(637): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCTCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCC CCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCC CCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTCT CCCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCT CTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCT CTCCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCTCCCCC TCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTC TCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
METRNL_chr17_83074609_83100122	83090386	C C	CCCCCACA others(613): Show CCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCG CCCCACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACA CACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCT GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCCACACACACACCCCGCCCCACACACACAC CCCCCGCCCCACACACACCCCCCGCCCCACACACACACCCCCCGCCCCAC ACACACACACACACCCCCCCACACACACACCCCGCCCCACACACACACCC CCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGCCCCACACAC ACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCC CGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGG GAGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACC CCCCCACACACACACCCCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0210 a0003c0006t0006g0210	1	294	0.0034	620	c.557 others(637): Show c.557-2769_557-2768insCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACAC ACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCC CGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACAC CCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCCACACACACACCCCGCCCCA CACACACACCCCCCGCCCCACACACACCCCCCGCCCCACACACACACCCC CCGCCCCACACACACACACACACCCCCCCACACACACACCCCGCCCCACA CACACACCCCCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGC CCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACAC ACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCC CCAGGGTGGGAGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACCCCCCCACACACACACCCCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(613): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCCATCCACCCATCCATGCACTCACCTGCCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAATCA TCCACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCATCTATC CATCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATCCATCCA CCCACCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCACCCATC CATCCATCCATCCAACCATCCACCCATCTATCCATCCATCCATCCAACCA CTCATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCTCCCATC CACCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCATCCACCCA TCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	191	0.0052	620	c.55 others(631): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGA GTGCATGGATGGGTGGATGGGCAGGTGAGTGCATGGATGGGTGGATGGGC AGGTGAGTGAATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGG ATGGATGGATGGATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGAC AGGTGGATGGATGGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(613): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	168	0.0060	620	c.394 others(635): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(613): Show TATATTCCATATATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATATACACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCTATATATACATACAT GGTATATATTCCAATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATA TATATACATACATGGAATATATATATTCCATACATGGAATATATATATTC CATATATACATATATATATTCCATATATACACAGATATATATTCCATATA TACACATATACATGGAATATATATCTGTATATATATGGAATATATATGTA TATGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATAT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	35	0.0286	620	c.474 others(639): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATATACACACATACATGGTATATATTCCATATATACATACATGGTATATA TTCCTATATATACATACATGGTATATATTCCAATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAT ACATGGTATATATTCCATATATATACATACATGGAATATATATATTCCAT ACATGGAATATATATATTCCATATATACATATATATATTCCATATATACA CAGATATATATTCCATATATACACATATACATGGAATATATATCTGTATA TATATGGAATATATATGTATATGTATTTATATTATGTATTTATATTATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATGTATATA TATTTATATTATAAATATATATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(613): Show AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTA GCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGG GATTTCCGTGACTGCGGTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0029 a0002c0003t0029	a0002c0003t0029g0363 a0002c0003t0029g0363	1	375	0.0027	620	c.-65 others(637): Show c.-65-1845_-65-1844insAGACTGTGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTC CGTGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(613): Show AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGG GATTTCCGTGACTGCGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0019 a0002c0017t0019	a0002c0017t0019g0332 a0002c0017t0019g0332	1	375	0.0027	620	c.-65 others(637): Show c.-65-1845_-65-1844insAGACTGTGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGGATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTC CGTGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(613): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAG TTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATAGT TTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTT TTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATAT AGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTT ATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03490.hp2 HG03492.hp2 HG02615.hp1 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0196 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0196	3	40	0.0750	620	c.342 others(639): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAA CTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATAT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NUDT9_chr4_87417573_87464455	87431865	T T	TTTTTTTT others(613): Show TTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG GTTGAACTAGTTTACAGTCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	620	c.108 others(637): Show c.108-3116_108-3115insTTTTTTTTTTTTTTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAA TGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC	NUDT9	ENSG00000170502.13	transcript	ENST00000302174.9	protein_coding	1/7			chr4	TogoVar
NXN_chr17_794310_984776	841445	C C	CTCCCTGA others(613): Show CTCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCA GGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCT CCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGG TCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACCCGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	160	0.0063	620	c.361 others(639): Show c.361-15368_361-15367insTGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGC TCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGAC CTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGG CGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGC CGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTT GCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(613): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCATT GTGTGTGCTATAGTGACTTAACGGAGGGCACCGTACGGTGCTATAGTGAC TTAACGGAGGGCACTGTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTG TGGTGTTATAGTGACTTAACGGAGGGCACCGGATGGTGCTATAGTGACTT AACGGAAGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACTGGAT GGTGCTATAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGACTTA ACGGAGGGCACCGTGTGGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp2 HG01192.hp1 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0115 a0002c0003t0001g0116	2	155	0.0129	620	c.125 others(635): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCGTACGGTGCCCTCCGTTAAGTCACTATAGC ACACACAATGCCCTCCGTTAAGTCACTATAGCACCACACGGTCCCCTCCG TTAAGTCACTATAGCACCATACGGTGCCCTCCGTTAAGTCACTATAGCAC CATACGGTGCCCTCCGTTAAGTCACTATAACACACACGGTGCCCTCCGTT AAGTCACTATAACACACACAGTGCCCTCCGTTAAGTCACTATAGCACCAT ACGGTGCCCTCCGTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAG TCACTATAGCATACACAGTGCCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(613): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	620	c.-26 others(631): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(613): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18950.hp1 NA19004.hp2 others(1): Show NA18947.hp1 NA18950.hp1 NA19004.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0002t0002g0147 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0002t0002g0147 a0001c0003t0001g0059	4	53	0.0755	620	c.129 others(637): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTA TTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(613): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACCACCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02630.hp2 others(4): Show HG01891.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG06807.hp1 NA19030.hp2 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0005c0006 a0002c0005 a0005c0006	a0002c0005t0004 a0005c0006t0004 a0002c0005t0004 a0005c0006t0004	a0002c0005t0004g0050 a0002c0005t0004g0188 a0005c0006t0004g0007 others(1): Show a0002c0005t0004g0050 a0002c0005t0004g0188 a0005c0006t0004g0007 a0005c0006t0004g0049	7	147	0.0476	620	c.215 others(639): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGG TGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGG TTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCG GTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(613): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC AATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC AATCCCACCCCTTCCCCAGCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	115	0.0087	620	c.132 others(641): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(613): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCC CTTCTCCTCCTCTTCCTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTC CTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTT CCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCT CCTCCTCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTC CTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTC CCCTCCTCCTCTTCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0001 a0001c0003t0016g0001	1	124	0.0081	620	c.-50 others(631): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAG AGGGGAGGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAG GAGGATGAGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAA AGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGA AGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGA AGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGG AGGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(613): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02630.hp2 others(4): Show HG01891.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp2 HG06807.hp2 NA19030.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0012 a0001c0023 a0002c0002 others(1): Show a0001c0012 a0001c0023 a0002c0002 a0003c0003	a0001c0012t0005 a0001c0023t0005 a0002c0002t0005 others(1): Show a0001c0012t0005 a0001c0023t0005 a0002c0002t0005 a0003c0003t0005	a0001c0012t0005g0065 a0001c0023t0005g0043 a0001c0023t0005g0115 others(3): Show a0001c0012t0005g0065 a0001c0023t0005g0043 a0001c0023t0005g0115 a0002c0002t0005g0121 a0003c0003t0005g0007 a0003c0003t0005g0012	7	152	0.0461	620	c.31 others(631): Show c.3153_*3154insCCAACCCCGGGAACCGCCTGCCCCCACCGACCAA CCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGAGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(613): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTT CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCC TCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	67	0.0149	620	c.306 others(639): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCC TCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCT TTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMF1_chr20_1113602_1177246	1149893	C C	CGTGACCC others(613): Show CGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACA CCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATT AGCTGGATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGA GGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGA TCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTAT AAATTAGCTGGATGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02040.hp2 HG00140.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0139 a0001c0001t0003g0120 a0001c0001t0003g0139	2	186	0.0108	620	c.552 others(639): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCT GGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTG TGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCC AGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGG TGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATT GCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1150048	T T	TGTGACCC others(613): Show TGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACA CCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATT AGCTGGATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGA GGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGA TCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTAT AAATTAGCTGGATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02165.hp2 HG02559.hp1 others(6): Show HG02055.hp1 HG02165.hp2 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0053 a0001c0006t0001 a0001c0006t0057 a0003c0004t0008	a0001c0001t0001g0020 a0001c0001t0001g0213 a0001c0001t0004g0217 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0213 a0001c0001t0004g0217 a0001c0001t0005g0210 a0001c0001t0053g0214 a0001c0006t0001g0020 a0001c0006t0001g0212 a0001c0006t0057g0211 a0003c0004t0008g0269	9	292	0.0308	620	c.552 others(639): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCT GGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCG TGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCC AGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGG TGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATT GCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(613): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0147 a0001c0001t0023g0147	1	68	0.0147	620	c.139 others(639): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(613): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	68	0.0147	620	c.139 others(639): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(613): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18952.hp2 NA18972.hp2 HG03669.hp2 NA18952.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0189	3	70	0.0429	620	c.139 others(639): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(613): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03942.hp1 NA18962.hp2 HG01261.hp1 HG03942.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0201 a0001c0001t0002g0221 a0001c0001t0002g0148 a0001c0001t0002g0201 a0001c0001t0002g0221	3	70	0.0429	620	c.139 others(639): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(613): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0183 a0001c0001t0028g0183	1	68	0.0147	620	c.139 others(639): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(613): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCCCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTTTCTCTCCTCCCACACGCCTGCTCTCTCC CTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0030 a0002c0016t0030	a0002c0016t0030g0014 a0002c0016t0030g0014	1	11	0.0909	620	c.88+ others(637): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGGGGGAGGAGAGAGGTGGGGACAGAGA GGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAGAG GGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGGGA GGAGAGAAAGAGGAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGGGA GGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGGTT GGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAAAA AGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGAGA GAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGAGA AGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGAGA GAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGTGG GTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGTGG AGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(613): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	235	0.0043	620	c.126 others(639): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(613): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTT ATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0052 a0003c0003 a0008c0052	a0003c0003t0004 a0008c0052t0001 a0003c0003t0004 a0008c0052t0001	a0003c0003t0004g0199 a0008c0052t0001g0200 a0003c0003t0004g0199 a0008c0052t0001g0200	2	127	0.0157	620	c.45- others(635): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	121	0.0083	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02965.hp1 HG01257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0044 a0001c0001t0026g0136 a0001c0001t0001g0044 a0001c0001t0026g0136	2	122	0.0164	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATACACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0155 a0001c0001t0029g0155	1	121	0.0083	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATACACACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0187	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp1 others(33): Show HG00140.hp1 HG00408.hp1 HG00621.hp1 HG00733.hp1 HG01099.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02027.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18949.hp2 NA18986.hp2 NA18992.hp2 NA18997.hp1 NA19001.hp2 NA19007.hp1 NA19012.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0014t0001 a0003c0003t0001 a0003c0014t0001	a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0008 others(23): Show a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0014 a0003c0003t0001g0050 a0003c0003t0001g0058 a0003c0003t0001g0065 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0001g0074 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0014t0001g0071	36	43	0.8372	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCTATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCTATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0110 a0003c0003t0001g0110	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02615.hp2 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0323 a0001c0005t0001g0326 a0001c0005t0001g0327 others(1): Show a0001c0005t0001g0323 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0009t0001g0329	4	11	0.3636	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0150 a0001c0005t0001g0150	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0316 a0001c0013t0001g0316	1	8	0.1250	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980139	T T	TCCATCCA others(613): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATC CATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCA CACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACC CACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCA TCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATC CATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCA TCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATC CACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTA TCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCA TCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCA TCCACCCACCCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0087 a0003c0003t0001g0087	1	371	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar

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