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
PHRF1_chr11_571470_617222	585221	T T	TTGAGGTA others(292): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAG CTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0177 a0003c0008t0004g0177	1	277	0.0036	299	c.215 others(316): Show c.215-2003_215-2002insTCTTTTCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585234	C C	CCTTTCCA others(292): Show CCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02630.hp2 others(1): Show HG02145.hp2 HG02451.hp2 HG02630.hp2 NA18906.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0081 a0003c0008t0004g0082 a0003c0008t0004g0122 others(1): Show a0003c0008t0004g0081 a0003c0008t0004g0082 a0003c0008t0004g0122 a0003c0008t0004g0246	4	244	0.0164	299	c.215 others(316): Show c.215-2003_215-2002insTCTTTTCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PICALM_chr11_85952175_86074084	86033415	T T	TGCCAAGC others(292): Show TGCCAAGCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	355	0.0028	299	c.131 others(316): Show c.131-1805_131-1804insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGC GGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGTGCTTGGC	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PITPNC1_chr17_67372281_67702256	67550441	G G	GAAAAGAC others(292): Show GAAAAGACAGGCAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19043.hp2 HG01257.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0169 a0001c0001t0009g0180 a0001c0001t0005g0169 a0001c0001t0009g0180	2	203	0.0099	299	c.198 others(316): Show c.198-1801_198-1800insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAA AAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAGACAGGCAAGG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(292): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGG GAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0018 a0001c0010t0060g0018	1	18	0.0556	299	c.262 others(314): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCTCTTCCCCCTC CCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTC CCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKD1_chr16_2083708_2140898	2104211	A A	AAGGGGGA others(292): Show AAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGATAAGGG AGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGATA AGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGAAAGGGAGGGGAAGGGGG AAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAA GGGGGAAAGGGAGGGAAGGGGGATAAGGGAGGGGAAGGGGGATAAGGGAG GGGAAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0193 a0010c0010t0002g0193	1	190	0.0053	299	c.816 others(316): Show c.8161+286_8161+287insCATCCCCCTTCCCCTCCCTTATCCCCCT TCCCCTCCCTTTCCCCCTTCCCCTCCCTTATCCCCCTTCCCCTCCCTTAT CCCCCTTCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCC TTATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCTTCCCC TCCCTTTCCCCCTTCCCCTCCTTATCCCCCTTCCCCTCCCTTTCCCCCTT CCCCTCCCTTTCCCCCTTCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCC CCTTCCCCTCCCTTTCCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PLIN3_chr19_4833341_4872667	4839823	G G	GCCAGGCT others(292): Show GCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTTTTTTTT TTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCAATCTTGACTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTC TCCTGCCTCAACCACCTGAGTAGCTGGGACTACAGGCGCCCACCACCACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02559.hp2 others(2): Show HG01255.hp2 HG02109.hp1 HG02559.hp2 HG02615.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 others(2): Show a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0172 a0002c0001t0001g0298	5	431	0.0116	299	c.961 others(314): Show c.961-288_961-287insTGTGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCAGGTGGTTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTG CAGTGAGTCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCTGG	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	7/7			chr19	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(292): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02965.hp1 others(1): Show HG02145.hp1 HG02717.hp1 HG02965.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	4	396	0.0101	299	c.-43 others(310): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		4223		chr15	TogoVar
PPP2R2D_chr10_131896008_131964834	131952858	G G	GGGTGTGT others(292): Show GGGTGTGTGTGTGGGGTTCACTGTCTTAGCAGTGACTTGCGGGGGGGGTC CCTGTCTTATCAGTGACTTGCGGGTGTGTGTGGGGGGTTCACTGTCTTAG CAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCGAGTGTGC GGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTCACTGTCT TAGTGACTTGCGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGC GGGTGTGTGTGGGAGGTTCACTGTCTTAGCAGTGACTTGCGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0156 a0001c0001t0009g0156	1	291	0.0034	299	c.108 others(318): Show c.1083-2824_1083-2823insTGTGTGTGTGGGGTTCACTGTCTTAG CAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGT GTGGGGGGTTCACTGTCTTAGCAGTGACTTGCGGGGGGGGTCCCTGTCTT ATCAGTGACTTGCGAGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGG TGTGCAGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTTC ACTGTCTTAGCAGTGACTTGCGGGTGTGTGTGGGAGGTTCACTGTCTTAG CAGTGACTTGCGGGTGTGTGTGG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806659	C C	CCACCATC others(292): Show CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACTACC ACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCACCCATCACCATCACCACCAGCACCACCCATCACTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00323.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0013 a0001c0038t0013 a0001c0001t0013 a0001c0038t0013	a0001c0001t0013g0156 a0001c0038t0013g0215 a0001c0001t0013g0156 a0001c0038t0013g0215	2	323	0.0062	299	c.265 others(318): Show c.2653-2046_2653-2045insATGGTGGTGGTAGTGATGGGTGGTGC TGGTGGTGATGGTGATGGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTAGTGATGGTGGTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151855369	A A	ACACACAC others(292): Show ACACACACCATCCACACACCACCCTCCACACACACCATGCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCAC CCTCCACACACCACCCTCTACCACCCTCCACACACCACCATCCACACACA CCACGCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACC ATCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACACCGC CCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACCACCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	247	0.0040	299	c.114 others(318): Show c.114+21137_114+21138insGAGGGTGGTGTGTGGAGGATGGTGTG TGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTG TGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTG GAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGG GTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTG GAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGA GGGTGGTGTGTGGATGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(292): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18981.hp1 NA18956.hp1 NA18981.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0036 a0005c0007t0001g0055 a0005c0007t0001g0036 a0005c0007t0001g0055	2	228	0.0088	299	c.757 others(316): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAATGTGTGTCTTCTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
RAMACL_chr6_166578009_166591678	166581948	G G	GGGTGAGA others(292): Show GGGTGAGATGGGGTGGGACGCCCACTCGGCAGGTGGGCTGGGCAGGAGAG CACGGGGAGAGGGCGGGATGGGGTGGAATGCCCACTGGGCAGGTGGGCTG GGCAGGAGGGCACAGGAAGAGGGTGAGATGGGGTGGGACGCCCACTCGGC AGGTGGGCTGGGCAGGAGGGCACGGGGAGAGGGCGGGATGGGGTGGAATG CCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGGTGAGATA GGGTGGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0000 a0001c0001t0023g0000	1	439	0.0023	299	c.41 others(310): Show c.4172_*4173insTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCC AGTGGGCGTCCCACCCTATCTCACCCTCTCCCTGTGCCCTCCTGCCCAGC CCACCTGCCCAGTGGGCATTCCACCCCATCCCGCCCTCTCCCCGTGCCCT CCTGCCCAGCCCACCTGCCGAGTGGGCGTCCCACCCCATCTCACCCTCTT CCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCATTCCACCCCATC CCGCCCTCTCCCCGTGCTCTCCTGCCCAGCCCACCTGCCGAGTGGGCGTC CCACCCCATCTCACC	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1060		chr6	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(292): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCATCTCCTGTCCCCC GTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCC CCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCG TCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	62	0.0161	299	c.757 others(314): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATC CCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCC ATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCG TCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RER1_chr1_2386841_2410436	2401346	C C	CTCCTCCC others(292): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCC TCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCC CTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCC TCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	320	0.0031	299	c.365 others(314): Show c.365+415_365+416insCCCTCCTCCTCCCTTCTTCCTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCC TCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTT CTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTC CCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130392142	C C	CCGTCAGT others(292): Show CCGTCAGTTACCTGGTGAATATTGAACGTTGTGATGACCCGGTCACCGTC ATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCA GTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATATTGAACGTT GTGATGACCCGGTCACCGTCATCACATGTCCGTCAGTTACCTGGTGAATA TTGAACGTTGTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCAGTCACCGTCATCACGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0173	1	177	0.0056	299	c.52 others(310): Show c.5218_*5219insCACACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACGGACACATGATGACGGTGACCGGG TCATCACAACGTTCAATATTCACCAGGTAACTGACGGACATGTGATGACG GTGACCGGGTCATCACAACGTTCAATATTCACCAGGTAACTGACGCACAC ACGTGATGACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAA CTGACGGACACGTGATGACGGTGACCGGGTCATCACAACGTTCAATATTC ACCAGGTAACTGACG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3990		chr12	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(292): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	234	0.0043	299	c.3+2 others(314): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPS6KA2_chr6_166404364_166632251	166581948	G G	GGGTGAGA others(292): Show GGGTGAGATGGGGTGGGACGCCCACTCGGCAGGTGGGCTGGGCAGGAGAG CACGGGGAGAGGGCGGGATGGGGTGGAATGCCCACTGGGCAGGTGGGCTG GGCAGGAGGGCACAGGAAGAGGGTGAGATGGGGTGGGACGCCCACTCGGC AGGTGGGCTGGGCAGGAGGGCACGGGGAGAGGGCGGGATGGGGTGGAATG CCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGGTGAGATA GGGTGGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	241	0.0041	299	c.100 others(318): Show c.100-43165_100-43164insTCTCCCTGTGCCCTCCTGCCCAGCCC ACCTGCCCAGTGGGCGTCCCACCCTATCTCACCCTCTCCCTGTGCCCTCC TGCCCAGCCCACCTGCCCAGTGGGCATTCCACCCCATCCCGCCCTCTCCC CGTGCCCTCCTGCCCAGCCCACCTGCCGAGTGGGCGTCCCACCCCATCTC ACCCTCTTCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCATTCC ACCCCATCCCGCCCTCTCCCCGTGCTCTCCTGCCCAGCCCACCTGCCGAG TGGGCGTCCCACCCCATCTCACC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0020 a0002c0063t0020	a0002c0063t0020g0001 a0002c0063t0020g0001	1	71	0.0141	299	c.394 others(316): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTG CGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGC CCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(292): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0089 a0001c0002t0015g0089	1	130	0.0077	299	c.394 others(316): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	88	0.0114	299	c.394 others(316): Show c.3940-449_3940-448insCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCGGCCCTCACCCCGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02273.hp2 others(2): Show HG00735.hp1 HG01109.hp2 HG02273.hp2 NA19007.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0042 others(2): Show a0001c0002 a0001c0030 a0001c0042 a0001c0061 a0001c0091	a0001c0002t0040 a0001c0030t0003 a0001c0042t0055 others(2): Show a0001c0002t0040 a0001c0030t0003 a0001c0042t0055 a0001c0061t0009 a0001c0091t0016	a0001c0002t0040g0108 a0001c0030t0003g0116 a0001c0042t0055g0179 others(2): Show a0001c0002t0040g0108 a0001c0030t0003g0116 a0001c0042t0055g0179 a0001c0061t0009g0040 a0001c0091t0016g0166	5	92	0.0543	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0088 a0001c0001t0015g0088	1	88	0.0114	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG03654.hp2 HG00639.hp1 HG01978.hp2 HG03654.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0027 a0001c0023 a0001c0024 a0001c0027	a0001c0023t0002 a0001c0024t0002 a0001c0027t0097 a0001c0023t0002 a0001c0024t0002 a0001c0027t0097	a0001c0023t0002g0048 a0001c0024t0002g0047 a0001c0027t0097g0059 a0001c0023t0002g0048 a0001c0024t0002g0047 a0001c0027t0097g0059	3	90	0.0333	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750573	T T	TATCTATA others(292): Show TATCTATAATATATAATATATCTATAATATATAATATATCTATAATATAT ATATTATAGATATAATATATAATATATTATATATATAATATATAATATAT TATATATAATATATTATATATTATATCTATAATATATAATATATTATATC TATAATATATTATATGTAATATATATGTTATATCTATAATATATATTATA TCTATAATATATAATATATTATATCTATAAATATAATATATTATATCTAT AATATATAATATATTATATCTATAATATATATTATATCTATAATATATAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	162	0.0062	299	c.242 others(316): Show c.242-4093_242-4092insTTATATATTATAGATATAATATATATTA TAGATATAATATATTATATATTATAGATATAATATATTATATTTATAGAT ATAATATATTATATATTATAGATATAATATATATTATAGATATAACATAT ATATTACATATAATATATTATAGATATAATATATTATATATTATAGATAT AATATATAATATATTATATATAATATATTATATATTATATATATAATATA TTATATATTATATCTATAATATATATATTATAGATATATTATATATTATA GATATATTATATATTATAGAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(292): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02602.hp1 HG03239.hp1 others(2): Show HG02129.hp1 HG02602.hp1 HG03239.hp1 HG03704.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	5	152	0.0329	299	c.899 others(314): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SARDH_chr9_133658560_133743352	133668580	C C	CACCCTCC others(292): Show CACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTC TCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCT CACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0002 a0003c0035t0002	a0003c0035t0002g0041 a0003c0035t0002g0041	1	259	0.0039	299	c.249 others(318): Show c.2496-1711_2496-1710insAAGGGAGAGGGAAGGTGAGGGAGAGG GAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAA GGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAG GGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGG GAGGGTAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284170	G G	GGGGGGGT others(292): Show GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGGTGGGGGGGTTGAGTGAGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0266 a0001c0001t0011g0266	1	286	0.0035	299	c.464 others(312): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGTGGGGGGGTTGAGTGAGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTT GAGTGAGGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(292): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0274 a0006c0015t0008g0274	1	164	0.0061	299	c.464 others(312): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTG GGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGT TGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(292): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	438	0.0023	299	c.22 others(310): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(292): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	2	0.5000	299	c.198 others(318): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(292): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	2	0.5000	299	c.198 others(318): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(292): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	298	0.0034	299	c.-83 others(308): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACT GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTC TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT GTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SFT2D1_chr6_166314728_166347545	166332580	T T	TGTGCTGC others(292): Show TGTGCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	386	0.0026	299	c.64- others(314): Show c.64-2334_64-2333insCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAGCAGCAC	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding	1/7			chr6	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(292): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATATAAATATATATTTATATAACATA TAAATATATATTTATATAACATATAAATATATATTTATATAACATATAAA TATATATTTATATAACATATAAATATATATTTATATAACATATAAATATA TATTTATATAACATATAAATATATATTTATATAACATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0056 a0001c0001t0059g0056	1	75	0.0133	299	c.39+ others(318): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATATGTTATATAAATATATATTTATATGTTATATAAATATATATTT ATATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATAT GTTATATAAATATATATTTATATGTTATATAAATATATATTTATATGTTA TATAAATATATATTTATATGTTATATAAATATATATTTATATGTTATATA AATATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM2_chr17_2332501_2386054	2355830	G G	GGTTGGGG others(292): Show GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG AGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	369	0.0027	299	c.134 others(316): Show c.134-5799_134-5798insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401789	C C	CGCTCACA others(292): Show CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	217	0.0046	299	c.41 others(310): Show c.4106_*4107insTGTGAGCGGGGCTGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCGGGTGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3926		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1098238	A A	ACCCAGGC others(292): Show ACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTT TAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCC CCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCA GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	81	0.0123	299	c.125 others(316): Show c.125-3991_125-3990insCGTGCAGAGGGTTAGAGGGGGGCTGGGT GAGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGGTTAG AAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGG TTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAG AGGGTTAGAGGGGGGCCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A12_chr11_64586220_64607344	64596230	G G	GATGGATG others(292): Show GATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATG GATGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAATAGATG GAATGGATAGATGGATGGATGGATGGTTTGATGGTTGAATGGATGGATGG ATGGATGGAATGGATGGATGAATGGAATTGATGGATGGATGGGATGGATG GATGGATTGATGGATAGTTGCAATAGATGGAATGGATGGATGGATGGATG GTCGAATGGATAGTTGAATGGATGGATGCATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01256.hp2 HG02738.hp1 others(3): Show HG01168.hp1 HG01256.hp2 HG02738.hp1 HG03492.hp1 NA18984.hp1 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0055 others(3): Show a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0225 a0001c0002t0002g0233 a0001c0002t0002g0248	6	387	0.0155	299	c.831 others(316): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATG GATGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGG ATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGG ATAGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAG TTGAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGA TGGAATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36789778	T T	TTATATTA others(292): Show TTATATTATATATATTTTTATATATTTATATATATATTTATATATATTTA TATATTTATATATATTTATATATATATTTATATATATTTATATATTTATA TATATTTATATATATATTTATATATATTTATATATTTATATATATTTATA TATATTTATATATATTTATATATTTATATATATTTATATATATATTTATA TATATTTATATATTTATATATATTTTTATATAATATATTTTTATTATATA TATATTTATATATATAATATAATATATATATTATATATATAATATATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	161	0.0062	299	c.203 others(318): Show c.203+24139_203+24140insTAAATATATTATATATATAATATATA TATTATATTATATATATAAATATATATATAATAAAAATATATTATATAAA AATATATATAAATATATAAATATATATAAATATATATATAAATATATATA AATATATAAATATATATAAATATATATAAATATATATAAATATATAAATA TATATAAATATATATATAAATATATATAAATATATAAATATATATAAATA TATATATAAATATATATAAATATATAAATATATATAAATATATATATAAA TATATAAAAATATATATAATATA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC27A2_chr15_50177196_50241385	50229239	T T	TTCATTTC others(292): Show TTCATTTCAGCTCCCAGCCATTCTTGGGCTCTCAGGCAAACAAAGTCTCA AATATGGGAGCTCCATGCCACATTTGGCACACCTCGAGAAAAGTCGTGTC ATGCTTAAGAGCTGGGAAATGATGTCCTAGCCTCTGAACTAGGAGGCAAA AAGAAGAGCCAGTGCAGTTGCTAGAAGAAAAAGCTGGGGAAAAGTGGATT TTGTACAGCCTCTTCTTTTTAAGATTTCTAAGCCCAGTTCACCACACTAA GTTTCAGAATCATCACACAAGAACGTTGTCACCGCAGCTTCATCTGCAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	360	0.0028	299	c.155 others(316): Show c.1555+200_1555+498dupATTTCAGCTCCCAGCCATTCTTGGGCTC TCAGGCAAACAAAGTCTCAAATATGGGAGCTCCATGCCACATTTGGCACA CCTCGAGAAAAGTCGTGTCATGCTTAAGAGCTGGGAAATGATGTCCTAGC CTCTGAACTAGGAGGCAAAAAGAAGAGCCAGTGCAGTTGCTAGAAGAAAA AGCTGGGGAAAAGTGGATTTTGTACAGCCTCTTCTTTTTAAGATTTCTAA GCCCAGTTCACCACACTAAGTTTCAGAATCATCACACAAGAACGTTGTCA CCGCAGCTTCATCTGCAGATC	SLC27A2	ENSG00000140284.11	transcript	ENST00000267842.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(292): Show GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTGTGTGTATATATATACACATAGTATATATATTCT ACGTGTGTATATATATACACATAGTATATATATTCTACGTGTGTATATAT ATACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAG AATATATATACTATGTATATATATATACACACGTAGAATATATATACTAT GTGTATATATACGTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02965.hp1 others(1): Show HG01884.hp2 HG02572.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0017 a0001c0001t0008g0117 a0001c0001t0019g0028 others(1): Show a0001c0001t0008g0017 a0001c0001t0008g0117 a0001c0001t0019g0028 a0001c0001t0019g0029	4	55	0.0727	299	c.174 others(318): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTGTGTGTATATATATACACA TAGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTC TACGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTATA CACATATATACATAGAATATATATACTATGTATATATATATACACACGTA GAATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTA TATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(292): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02145.hp2 others(2): Show HG00741.hp1 HG01884.hp1 HG02145.hp2 HG03516.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0036 a0001c0001t0003 a0001c0001t0007 a0001c0001t0036	a0001c0001t0003g0116 a0001c0001t0003g0167 a0001c0001t0003g0177 others(2): Show a0001c0001t0003g0116 a0001c0001t0003g0167 a0001c0001t0003g0177 a0001c0001t0007g0032 a0001c0001t0036g0143	5	74	0.0676	299	c.100 others(318): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT CTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(292): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0106 a0001c0001t0007g0045 a0001c0001t0007g0106	2	71	0.0282	299	c.100 others(318): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79919518	C C	CAAGGGAG others(292): Show CAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGGGAGAGGTC AAGGTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAAGGTCAGTGGGG AGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACTG AGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAA GGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAGGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGAGGAGGAGAGACGGGAACT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01952.hp1 others(12): Show HG00423.hp1 HG00609.hp2 HG01952.hp1 HG02148.hp1 HG03942.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp2 NA18960.hp1 NA18964.hp1 NA18981.hp2 NA19009.hp1 NA19060.hp2 NA19067.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0032g0034	15	346	0.0434	299	c.392 others(314): Show c.392-119_392-118insAGTTCCCGTCTCTCCTCCTCTGACCTTGAC CTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGT TCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCC ACTGAGCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACC TCTCACTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTC CATCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTCTCCCCAC TGAGCTTGACCTCTCCCTT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919518	C C	CAAGGGAG others(292): Show CAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGGGAGAGGTC AAGGTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCTAGGTCAGTGGGG AGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACTG AGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAA GGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAGGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGAGGAGGAGAGACGGGAACT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	332	0.0030	299	c.392 others(314): Show c.392-119_392-118insAGTTCCCGTCTCTCCTCCTCTGACCTTGAC CTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGT TCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCC ACTGAGCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACC TCTCACTCGGTTCCGTCTCTCCCCACTGACCTAGACCTCTCAGTCGGTTC CATCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTCTCCCCAC TGAGCTTGACCTCTCCCTT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(292): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	437	0.0023	299	c.732 others(314): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(292): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	418	0.0024	299	c.732 others(314): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(292): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	112	0.0089	299	c.212 others(318): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCG TCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(292): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02004.hp1 HG02074.hp1 others(6): Show HG00597.hp2 HG02004.hp1 HG02074.hp1 HG02129.hp2 HG02300.hp1 HG03704.hp1 NA18963.hp2 NA19002.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0019	a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0001g0135 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0004g0010 a0001c0001t0004g0013 a0002c0002t0002g0005 a0002c0002t0002g0096 a0002c0002t0019g0018	9	120	0.0750	299	c.212 others(318): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCG TCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar

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