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
MFSD14A_chr1_100033095_100088377	100086087	C C	CAAATTAA others(310): Show CAAATTAATACAAATGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	242	0.0041	317	c.38 others(328): Show c.3878_*3879insAAATTAATACAAATGAGGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	MFSD14A	ENSG00000156875.14	transcript	ENST00000370152.8	protein_coding		2711		chr1	TogoVar
MIDEAS_chr14_73710122_73765303	73719828	G G	GCTCATGC others(310): Show GCTCATGCCCTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01517.hp1 NA18946.hp1 HG01169.hp2 HG01517.hp1 NA18946.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0011 a0009c0016t0001 a0001c0001t0001 a0001c0001t0011 a0009c0016t0001	a0001c0001t0001g0066 a0001c0001t0011g0277 a0009c0016t0001g0041 a0001c0001t0001g0066 a0001c0001t0011g0277 a0009c0016t0001g0041	3	352	0.0085	317	c.293 others(334): Show c.2938-328_2938-327insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAGAACAGGGCATGAG	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	11/12			chr14	TogoVar
MME_chr3_155075319_155188704	155185251	T T	TAAAAATA others(310): Show TAAAAATATTATTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show HG02257.hp1 HG02451.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0037 a0001c0001t0048	a0001c0001t0001g0137 a0001c0001t0001g0308 a0001c0001t0001g0319 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0308 a0001c0001t0001g0319 a0001c0001t0006g0043 a0001c0001t0035g0178 a0001c0001t0037g0199 a0001c0001t0048g0009	7	336	0.0208	317	c.47 others(328): Show c.4792_*4793insAAAAATATTATTTGGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding		1548		chr3	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(310): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19240.hp1 HG01109.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0222 a0001c0001t0018g0223 a0001c0001t0018g0222 a0001c0001t0018g0223	2	402	0.0050	317	c.14+ others(332): Show c.14+2385_14+2386insTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MON2_chr12_62461826_62605476	62545693	T T	TAATAACC others(310): Show TAATAACCATTCCAGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGAGGGGGCTGA GACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA CTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp1 HG02809.hp2 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0103 a0001c0009t0019g0104 a0001c0009t0019g0103 a0001c0009t0019g0104	2	368	0.0054	317	c.257 others(334): Show c.2577+698_2577+699insGGGCCGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGAG GGGGCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATAACCATTCCA	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MPPED1_chr22_43407014_43512848	43497757	A A	ATCTGCTC others(310): Show ATCTGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp1 NA19240.hp2 HG02109.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0008 a0001c0003t0010 a0001c0001t0002 a0001c0003t0008 a0001c0003t0010	a0001c0001t0002g0009 a0001c0003t0008g0037 a0001c0003t0010g0160 a0001c0001t0002g0009 a0001c0003t0008g0037 a0001c0003t0010g0160	3	250	0.0120	317	c.633 others(332): Show c.633-465_633-464insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGCTCTCTTTT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZL1_chr1_167716982_167796919	167743625	G G	GGTTAGGT others(310): Show GGTTAGGTATATTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAG CTGGGACTACAGGTGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18960.hp1 HG03491.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0113 a0001c0001t0028g0235 a0001c0001t0007g0113 a0001c0001t0028g0235	2	378	0.0053	317	c.91+ others(334): Show c.91+21398_91+21399insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGTGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGTTAGGTATATTCCT	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54698798	T T	TTTTTTTT others(310): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0087 a0003c0087	a0003c0087t0001 a0003c0087t0001	a0003c0087t0001g0065 a0003c0087t0001g0065	1	380	0.0026	317	c.296 others(336): Show c.2965-1510_2965-1509insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTTTTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(310): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp2 others(46): Show HG00099.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01243.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp2 HG03098.hp2 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp1 NA18961.hp2 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA19000.hp2 NA19005.hp1 NA19068.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(43): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0192 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0006g0285	49	358	0.1369	317	c.112 others(332): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSLN_chr16_755734_773862	767786	T T	TGGGGGGG others(310): Show TGGGGGGGGCGCATGGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTG TGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGGCGCATGGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0300 a0001c0008t0001g0300	1	388	0.0026	317	c.159 others(334): Show c.1596+322_1596+323insGGCGCATGGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGC GTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCGTGGAGGGGGGTGCGTG GAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTMR12_chr5_32222007_32317939	32313934	G G	GCTAATTT others(310): Show GCTAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03540.hp1 HG01884.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0012 a0001c0001t0018g0011 a0001c0001t0018g0012	2	364	0.0055	317	c.-10 others(328): Show c.-1097_-1096insGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAACAAAAATTAG	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding		996		chr5	TogoVar
MTNR1A_chr4_186528655_186560567	186547151	C C	CACACCAC others(310): Show CACACCACACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCC TGGGACACACCGTCCACACCACACCCTGTTCCTGGGACACACCGTCCACA CCACACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCGTGGG ACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCAC ACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGGGACAC ACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCACACCC TGTTCGTGGGACACACCG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	396	0.0025	317	c.184 others(334): Show c.184+8030_184+8031insCGGTGTGTCCCACGAACAGGGTGTGGTG TGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACG AACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGA CGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACA GGGTGTGGTGTGGACGGTGTGTCCCAGGAACAGGGTGTGGTGTGGACGGT GTGTCCCAGGAACAGGGTGTGGTGTGGACGGTGTGTCCCAGGAACAGGGT GTGGTGTGGACGGTGTGTCCCAGGAACAGGGTGTGGTGT	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MTRR_chr5_7864148_7906113	7887289	A A	ACCAGGAA others(310): Show ACCAGGAACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03688.hp2 HG01106.hp2 HG03688.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0010 a0003c0016t0010	a0003c0016t0010g0053 a0003c0016t0010g0245 a0003c0016t0010g0053 a0003c0016t0010g0245	2	428	0.0047	317	c.114 others(334): Show c.1146+603_1146+604insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGGAACTGTTTTTTT	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(310): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCTCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	244	0.0041	317	c.286 others(338): Show c.2864+38256_2864+38257insGGCCGGGAGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32780504	T T	TTTGGATT others(310): Show TTTGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03516.hp2 HG02145.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0002g0127 a0001c0001t0003g0122 a0001c0001t0001g0123 a0001c0001t0002g0127 a0001c0001t0003g0122	3	244	0.0123	317	c.304 others(330): Show c.304+71_304+72insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCCAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	2/21			chr17	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTTG others(310): Show TTTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGC ACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTT GGCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTA GGCTGCTCTCGAACTCCTGACCTCAGATGACCCACTTGCCTTCGCCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACT TTTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02165.hp1 NA18969.hp1 others(2): Show HG02027.hp1 HG02165.hp1 NA18969.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0015 a0001c0006t0013 a0001c0006t0015	a0001c0006t0013g0003 a0001c0006t0013g0004 a0001c0006t0013g0005 others(2): Show a0001c0006t0013g0003 a0001c0006t0013g0004 a0001c0006t0013g0005 a0001c0006t0013g0006 a0001c0006t0015g0002	5	302	0.0166	317	c.342 others(336): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCG AAGGCAAGTGGGTCATCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTTG others(310): Show TTTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGC ACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTT GGCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTA GGCTGCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCACCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACT TTTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02451.hp2 HG02717.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0075 a0004c0008t0076 a0004c0008t0075 a0004c0008t0076	a0004c0008t0075g0299 a0004c0008t0076g0298 a0004c0008t0075g0299 a0004c0008t0076g0298	2	302	0.0066	317	c.342 others(336): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTTG others(310): Show TTTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGC ACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTT GGCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTA GGCTGCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCGCCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACT TTTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02258.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0254 a0001c0006t0014g0255 a0001c0006t0014g0256 others(1): Show a0001c0006t0014g0254 a0001c0006t0014g0255 a0001c0006t0014g0256 a0001c0006t0014g0257	4	302	0.0133	317	c.342 others(336): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYRIP_chr3_39804609_40265321	40200117	T T	TTACATTT others(310): Show TTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp2 HG00099.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0120 a0001c0001t0001g0014 a0001c0001t0001g0120	2	170	0.0118	317	c.166 others(336): Show c.1665+9668_1665+9669insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTCAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCACGCCCGGCCTACATTTTCTTTTT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136023099	A A	AGGGAGGG others(310): Show AGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAG GGAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGG ACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGCGGGAGG GGGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGAGAGAGGAGGGA GGAGAGAGGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGG GGGGAGGGAAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0002 a0002	a0002c0006 a0002c0038 a0002c0006 a0002c0038	a0002c0006t0011 a0002c0038t0065 a0002c0006t0011 a0002c0038t0065	a0002c0006t0011g0096 a0002c0038t0065g0057 a0002c0006t0011g0096 a0002c0038t0065g0057	2	348	0.0058	317	c.887 others(334): Show c.887-6671_887-6670insCCTCCCTCTTCCCTCCCCCCCTCCTCCC TCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCTCTCTCCTCCCTCCTCT CTCCTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCCTCCCCCCTCCCGCCT CCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTC CCTCCCTCCTCCCTCCCTCTTCCCTCCCTCCTCCCTCCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023099	A A	AGGGAGGG others(310): Show AGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAG GGAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGG ACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGCGGGAGG GGGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGAGAGAGGAGGGA GGAGAGAGGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGG GGGGAGGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0057 a0002c0006t0057	a0002c0006t0057g0242 a0002c0006t0057g0242	1	348	0.0029	317	c.887 others(334): Show c.887-6671_887-6670insCCTCCCTCCTCCCTCCCCCCCTCCTCCC TCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCTCTCTCCTCCCTCCTCT CTCCTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCCTCCCCCCTCCCGCCT CCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTC CCTCCCTCCTCCCTCCCTCTTCCCTCCCTCCTCCCTCCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(310): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGGAGGGAA GGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGA GGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGA GGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAA GGAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGGAGGGA GGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0302 a0001c0003t0005g0302	1	348	0.0029	317	c.887 others(334): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCC CTCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCT CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCC TCCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NALCN_chr13_101048776_101421508	101099062	T T	TAGGCCAC others(310): Show TAGGCCACTGTTTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02622.hp1 HG02965.hp1 others(5): Show HG01975.hp2 HG02622.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03516.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0003 a0001c0001t0003 a0001c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0010 others(5): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0006t0003g0016	8	176	0.0455	317	c.316 others(336): Show c.3162+1721_3162+1722insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAACAAAAAAAAAAAACAGTGGCCT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	27/43			chr13	TogoVar
NAXD_chr13_110610545_110644996	110628944	G G	GGCCGGGC others(310): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAACCACTGTACTGCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0209 a0001c0001t0011g0209	1	392	0.0026	317	c.441 others(334): Show c.441+1397_441+1398insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAACCACTGTACTGCA	NAXD	ENSG00000213995.12	transcript	ENST00000680254.1	protein_coding	5/9			chr13	TogoVar
NCOA6_chr20_34709774_34830651	34772638	A A	ACATATTT others(310): Show ACATATTTCCAGCAGGAAAAAAATCATGCAATGAAGAGGAGATAGGTTGC TACAAATCTACTTTCTGAGACACCTAATGACAGGACCAATACTTTTATAG GTTTTTGTTTTCTGAGATGGGGTCTCACTTTGTCACCCAGGCTGCAGTGC AGTGGCACAGTCATATAGCTCACCACTACCTTAAATTCCTGGGCCCAAGG GGTCCTGCTGCCTCAGCCTCCTGAGTTGCTGGGACCACAGGCGCACATCA CTATGTCCGGCTACGTATAGGATTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACTCAGGCTAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02818.hp1 HG00642.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0206 a0001c0002t0001g0207	2	290	0.0069	317	c.391 others(334): Show c.391+3654_391+3655insCTCTAGCCTGAGTGACAGAGCAAGACTC CATCTCAAAAAAAAAAAATCCTATACGTAGCCGGACATAGTGATGTGCGC CTGTGGTCCCAGCAACTCAGGAGGCTGAGGCAGCAGGACCCCTTGGGCCC AGGAATTTAAGGTAGTGGTGAGCTATATGACTGTGCCACTGCACTGCAGC CTGGGTGACAAAGTGAGACCCCATCTCAGAAAACAAAAACCTATAAAAGT ATTGGTCCTGTCATTAGGTGTCTCAGAAAGTAGATTTGTAGCAACCTATC TCCTCTTCATTGCATGATTTTTTTCCTGCTGGAAATATG	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	4/14			chr20	TogoVar
NDST3_chr4_118029486_118263634	118197683	T T	TTCCATGT others(310): Show TTCCATGTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG03139.hp2 others(1): Show HG02615.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0107 a0001c0005t0004g0100 a0001c0005t0004g0106 others(1): Show a0001c0005t0001g0107 a0001c0005t0004g0100 a0001c0005t0004g0106 a0001c0005t0004g0108	4	216	0.0185	317	c.154 others(338): Show c.1540-26797_1540-26796insGTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCATGTGTGT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(310): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02895.hp1 others(7): Show HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp1 HG03486.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0044 a0001c0004t0004	a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0005g0090 others(7): Show a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0005g0090 a0001c0001t0009g0115 a0001c0001t0011g0105 a0001c0001t0014g0108 a0001c0001t0015g0001 a0001c0001t0017g0085 a0001c0001t0044g0020 a0001c0004t0004g0116	10	118	0.0848	317	c.297 others(336): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAGGTTG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(310): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG02132.hp2 others(11): Show HG01123.hp1 HG01168.hp2 HG02132.hp2 HG02293.hp1 HG02735.hp1 HG03239.hp1 HG03688.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18971.hp1 NA18982.hp2 NA18994.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0005t0001g0001 a0001c0001t0001g0001 a0001c0005t0001g0001	14	430	0.0326	317	c.29 others(328): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEGR1_chr1_71390943_72287539	72048423	T T	TTCTATCT others(310): Show TTCTATCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACAGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp2 HG02109.hp1 others(4): Show HG00741.hp1 HG01515.hp2 HG02109.hp1 HG02559.hp2 HG02970.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0006t0009	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0005g0063 a0001c0001t0006g0004 a0001c0002t0002g0053 a0001c0006t0009g0023	7	64	0.1094	317	c.177 others(338): Show c.177-113113_177-113112insGGCCGGGCGCTGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGAGGTGGTGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGAAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGATAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72173322	T T	TAGCAATC others(310): Show TAGCAATCTTATTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01071.hp2 others(18): Show HG00597.hp1 HG00639.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02896.hp2 HG02970.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0002t0014 a0001c0002t0020 a0001c0002t0021 a0001c0003t0008 a0001c0003t0024 a0001c0005t0005	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0024 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0003g0022 a0001c0001t0007g0018 a0001c0001t0012g0012 a0001c0001t0015g0060 a0001c0001t0016g0020 a0001c0001t0017g0059 a0001c0001t0018g0001 a0001c0001t0023g0062 a0001c0002t0014g0057 a0001c0002t0020g0007 a0001c0002t0021g0061 a0001c0003t0008g0013 a0001c0003t0024g0021 a0001c0005t0005g0058	21	64	0.3281	317	c.176 others(338): Show c.176+108996_176+108997insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAATAAGATTGCT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(310): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0163 a0002c0005t0001g0163	1	292	0.0034	317	c.171 others(336): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCTAGTCTGGCATT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(310): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 HG02970.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0090 a0002c0002t0001g0092	2	292	0.0069	317	c.171 others(336): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCTAGTCTGGCATT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCTTCCC others(310): Show ACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCT CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCTCAACCCAGGG ACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	319	0.0031	317	c.-37 others(328): Show c.-3722_-3721insCCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCTCAACCCAGGGACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79474701	G G	GTGAGGGA others(310): Show GTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGG AAGCGTGTTCTCACGCTCACTGTCGACGTTGCGAGGGAAGCGTTTTCACA CTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCAACGT AAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGT GTTCTCACGCTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGC TCGCTGTCGACGTAAACC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0194	1	322	0.0031	317	c.209 others(336): Show c.2092+7153_2092+7469dupATTGTAAACCTGAGGGAAGCGTGTTC TCACGCTCACTGTCGACGTTGCGAGGGAAGCGTTTTCACACTGTCGACGT AAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGG GAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGT GTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGC TCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGA CGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGAC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656478	C C	CCCGCAGC others(310): Show CCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTC TTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCAC CTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCC CACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCA GCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTC TCTGAAACCCACCTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	366	0.0027	317	c.-16 others(338): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(310): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	410	0.0024	317	c.136 others(332): Show c.136-853_136-852insTTTTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATCAGCACTTCTTT	NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26			chr11	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(310): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(130): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02809.hp1 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0016 others(8): Show a0001c0001 a0001c0003 a0001c0016 a0001c0018 a0001c0020 a0002c0015 a0003c0011 a0003c0012 a0004c0022 a0006c0013 a0007c0019	a0001c0001t0001 a0001c0003t0001 a0001c0016t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0016t0001 a0001c0018t0001 a0001c0020t0001 a0002c0015t0001 a0003c0011t0001 a0003c0012t0001 a0004c0022t0001 a0006c0013t0001 a0007c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0018 others(69): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0003t0001g0001 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0031 a0001c0003t0001g0093 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0132 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0153 a0001c0016t0001g0102 a0001c0018t0001g0104 a0001c0020t0001g0133 a0002c0015t0001g0098 a0003c0011t0001g0151 a0003c0012t0001g0111 a0004c0022t0001g0134 a0006c0013t0001g0117 a0007c0019t0001g0110	133	410	0.3244	317	c.136 others(332): Show c.136-853_136-852insTTTTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATCAGCACTTCTTT	NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26			chr11	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(310): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	410	0.0024	317	c.136 others(332): Show c.136-853_136-852insTTTTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTATAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATCAGCACTTCTTT	NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26			chr11	TogoVar
NGEF_chr2_232873701_233018256	232995533	C C	CTGTATAT others(310): Show CTGTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACT GTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGT ATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTAT ATATATACAGTATGTATACTGTATATATATACAGTATGTATACTATATAC AGTATGTATACTATATACAGTATGTATACTATATACAGTATGTATACTAT ATATATACAGTATGTATACTATATATATACAGTATGTATACTATATATAT ACAGTATGTATACTATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0240 a0001c0002t0003g0242	2	362	0.0055	317	c.-75 others(336): Show c.-75+17534_-75+17535insATATAGTATACATACTGTATATATAT AGTATACATACTGTATATATATAGTATACATACTGTATATATATAGTATA CATACTGTATATAGTATACATACTGTATATAGTATACATACTGTATATAG TATACATACTGTATATATATACAGTATACATACTGTATATATATACAGTA TACATACTGTATATATATACAGTATACATACTGTATATATATACAGTATA CATACTGTATATATATACAGTATACATACTGTATATATATACAGTATACA TACTGTATATATATACAGTATACATACTGTATATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(310): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	356	0.0028	317	c.91+ others(330): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(310): Show GGTGGGGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGAGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0014 a0008c0030t0014	a0008c0030t0014g0172 a0008c0030t0014g0172	1	324	0.0031	317	c.140 others(334): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535545	C C	CAGGGGCA others(310): Show CAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAG GATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCAC TCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCA CTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAG CACTCAGGATCCCTCCCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0306 a0001c0001t0007g0306	1	324	0.0031	317	c.140 others(334): Show c.140+8478_140+8479insTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCT CCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(310): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTG GGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	324	0.0031	317	c.140 others(334): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAS3_chr14_32933879_33809173	33516081	T T	TAAATAGG others(310): Show TAAATAGGTATTTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0003 a0002c0004t0008g0003	1	92	0.0109	317	c.469 others(336): Show c.469-44025_469-44024insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGTATTTATA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(310): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG01952.hp2 others(2): Show HG01123.hp1 HG01255.hp1 HG01952.hp2 HG02027.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0088 others(2): Show a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0100	5	384	0.0130	317	c.-6- others(334): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NSDHL_chrX_152826063_152874729	152833246	C C	CAAAAGTT others(310): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02055.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0061 a0001c0001t0001g0060 a0001c0001t0002g0061	2	324	0.0062	317	c.-44 others(334): Show c.-44+2144_-44+2145insGCCGGGCGCGGTGGCTCACGCTTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAA AAAATTAGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATGTGG	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NTM_chr11_131365615_132341822	131491426	T T	TAAAAAAT others(310): Show TAAAAAATTATTACTTGTGGCCGGGCGCGGTGGCTCACGCCTCTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	86	0.0116	317	c.82+ others(336): Show c.82+120556_82+120557insGCCGGGCGCGGTGGCTCACGCCTCTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAATTATTACTTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131491426	T T	TAAAAAAT others(310): Show TAAAAAATTATTACTTGTGGCCGGGCGCGGTGGCTCACGCCTCTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0003g0081 a0001c0001t0001g0023 a0001c0001t0003g0081	2	86	0.0233	317	c.82+ others(336): Show c.82+120556_82+120557insGCCGGGCGCGGTGGCTCACGCCTCTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAATTATTACTTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTRK2_chr9_84664729_85032054	84891299	T T	TCCCTGCA others(310): Show TCCCTGCATTCTTTTTTTTTTTTTTTTTGAGACGGAGCCTCGCTCTGTCG CCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp1 HG02486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0058 a0001c0001t0053 a0001c0001t0058	a0001c0001t0053g0109 a0001c0001t0058g0002 a0001c0001t0053g0109 a0001c0001t0058g0002	2	170	0.0118	317	c.163 others(338): Show c.1633+23882_1633+23883insTTTTTTTTTTTTTGAGACGGAGCC TCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTGCATTCTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUBPL_chr14_31556404_31866224	31807284	T T	TTGTTTCC others(310): Show TTGTTTCCTGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG03516.hp1 HG02622.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0201 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0001t0008g0201 a0001c0002t0002g0002 a0001c0002t0002g0004	3	268	0.0112	317	c.608 others(336): Show c.608-19329_608-19328insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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