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
MIOS_chr7_7561884_7613932	7568633	A A	ACATTGTA others(312): Show ACATTGTAAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	330	0.0030	319	c.-41 others(334): Show c.-41+527_-41+528insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC TTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCATTGTAAATAATTTTT	MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLH3_chr14_75008775_75056467	75032863	T T	TTGGAAAG others(312): Show TTGGAAAGATAGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	262	0.0038	319	c.371 others(336): Show c.3715+555_3715+556insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAATCTATCTTTCCA	MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	7/12			chr14	TogoVar
MNS1_chr15_56423724_56470137	56449313	T T	TGCTACAC others(312): Show TGCTACACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18990.hp2 HG00558.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0077 a0001c0001t0001g0078	2	414	0.0048	319	c.354 others(336): Show c.354-2371_354-2370insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGTAGC	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	3/9			chr15	TogoVar
MPZL1_chr1_167716982_167796919	167743625	G G	GGTTAGGT others(312): Show GGTTAGGTATATTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGT AGCTGGGACTACAGGTGCGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	378	0.0027	319	c.91+ others(336): Show c.91+21398_91+21399insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGTGTAGCTGGGACTACAGGTGCGCGCCACCATGCCCGGCTAATTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTTAGGTATATTCCT	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(312): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18967.hp1 HG03704.hp2 NA18967.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0013 a0001c0005 a0006c0013	a0001c0005t0002 a0006c0013t0001 a0001c0005t0002 a0006c0013t0001	a0001c0005t0002g0166 a0006c0013t0001g0263 a0001c0005t0002g0166 a0006c0013t0001g0263	2	380	0.0053	319	c.296 others(338): Show c.2965-1510_2965-1509insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTTTTT	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(312): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18998.hp1 HG06807.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0297 a0001c0001t0001g0298	2	358	0.0056	319	c.112 others(334): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRTFA_chr22_40405289_40641719	40496471	T T	TAAATAAC others(312): Show TAAATAACTACTGTCTTTATAATAAGCCAAAAATCTTTTTCTCAAGAAAG GGCACCAGGCTGAGTCAGGAGTCCTGGTTTCCAGCAAGATCCATAATAAA TGCATTTTAAGTAAAGGACTTAAAACAGTGCCCATTCTATAAGCACTCAG TAAATTTGAGCTGTTGTCCTCACACAATTATGTAACACATACATATACAT GTTTCTATATATGCACAGGAGAGAGTAGAAGCACAGTCACCAATCTGGGT GGTTGGAATAGAACAATCTATTTTCTCTTTCTCCCTTTTGTTTATCTGTA TCTTCTACATTTTCTACATC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	256	0.0039	319	c.242 others(338): Show c.242-33504_242-33186dupGATGTAGAAAATGTAGAAGATACAGA TAAACAAAAGGGAGAAAGAGAAAATAGATTGTTCTATTCCAACCACCCAG ATTGGTGACTGTGCTTCTACTCTCTCCTGTGCATATATAGAAACATGTAT ATGTATGTGTTACATAATTGTGTGAGGACAACAGCTCAAATTTACTGAGT GCTTATAGAATGGGCACTGTTTTAAGTCCTTTACTTAAAATGCATTTATT ATGGATCTTGCTGGAAACCAGGACTCCTGACTCAGCCTGGTGCCCTTTCT TGAGAAAAAGATTTTTGGCTTATTATAAAGACAGTAGTTATTT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(312): Show GGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGG GGCGTGTGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCCCGTGG AGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGA GCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGC GGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAG GGGCGAGCGGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0342 a0020c0033t0001g0342	1	388	0.0026	319	c.159 others(336): Show c.1596+322_1596+323insGTGTGGAGGGGGGCGCGTGGGGGTGCGT GGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGTGCGTGGAGGAGGGGCG TGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTG GAGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAG CGGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGG AGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTUS2_chr13_28815339_29510947	28964738	G G	GCTTTTTT others(312): Show GCTTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTTG CTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0092 a0002c0002t0008g0092	1	92	0.0109	319	c.-24 others(340): Show c.-242-59704_-242-59703insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTTGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTGTGTTTTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MXI1_chr10_110202605_110292365	110251010	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG TCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGACTAAGTATTTGTTAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01106.hp2 others(23): Show HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01433.hp1 HG01934.hp2 HG02451.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp2 NA18967.hp2 NA19068.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0003t0002	a0001c0001t0001g0193 a0001c0001t0002g0032 a0001c0001t0002g0055 others(23): Show a0001c0001t0001g0193 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0279 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0307 a0001c0001t0002g0334 a0001c0001t0002g0342 a0001c0001t0002g0346 a0001c0001t0016g0297 a0001c0001t0016g0306 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0209 a0001c0003t0002g0340 a0001c0003t0002g0344	26	372	0.0699	319	c.437 others(336): Show c.437+6153_437+6154insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTAAGTATTTGTTAA	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	3/5			chr10	TogoVar
MXI1_chr10_110202605_110292365	110251010	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG TCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGACTAAGTATTTGTTAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	372	0.0027	319	c.437 others(336): Show c.437+6153_437+6154insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTAAGTATTTGTTAA	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	3/5			chr10	TogoVar
MXI1_chr10_110202605_110292365	110251010	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG TCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGTTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGACTAAGTATTTGTTAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	372	0.0027	319	c.437 others(336): Show c.437+6153_437+6154insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTAAGTATTTGTTAA	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	3/5			chr10	TogoVar
MYL2_chr12_110905845_110925579	110905997	T T	TATATATT others(312): Show TATATATTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTTTATAAAATATATATTATATTATATAATATATATTTTATAAAATATAT ATTATATTATATATAATATATATTATATAAAATATATATATTATTATAAT ATATATTATATAAAATATATATTATATTATTATAATATATATTATATAAA AATATATATTATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	319	c.50 others(330): Show c.5079_*5080insTATATAATATAATATATATTTTTATATAATATAT ATTATAATAATATAATATATATTTTATATAATATATATTATAATAATATA TATATTTTATATAATATATATTATATATAATATAATATATATTTTATAAA ATATATATTATATAATATAATATATATTTTATAAAATATATATTATATAA TATAATATATATTTTATATAATATATATTATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4847		chr12	TogoVar
MYO10_chr5_16656907_16941288	16853883	A A	AGAGCCCG others(312): Show AGAGCCCGTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0036 a0001c0034t0036	a0001c0034t0036g0013 a0001c0034t0036g0013	1	272	0.0037	319	c.120 others(338): Show c.120+23725_120+23726insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAACGGGCTC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO1C_chr17_1459186_1497686	1459409	T T	TTCCTGGA others(312): Show TTCCTGGAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0003 a0001c0042t0003	a0001c0042t0003g0281 a0001c0042t0003g0281	1	430	0.0023	319	c.63 others(330): Show c.6316_*6317insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGAACATTCCAGGA	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding		4776		chr17	TogoVar
MYO3A_chr10_25929229_26217532	25937006	T T	TAGAAGTC others(312): Show TAGAAGTCGTATGCGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0005 a0003c0022t0005	a0003c0022t0005g0278 a0003c0022t0005g0278	1	280	0.0036	319	c.-18 others(336): Show c.-18+1190_-18+1191insGGCCGGGCGTGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGA GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGTCGTATGCG	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYOZ2_chr4_119130832_119192789	119150496	T T	TAAAAATG others(312): Show TAAAAATGTGGGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	394	0.0025	319	c.77- others(332): Show c.77-360_77-359insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAATGTGGGGAGCA	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(312): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGA GGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGA GGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGG AGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGG GAGGAGGGAGGAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0010 a0003c0013t0010	a0003c0013t0010g0119 a0003c0013t0010g0119	1	348	0.0029	319	c.887 others(336): Show c.887-6680_887-6679insGTCCCTCCTCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCT CCCTCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCG TCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTC CCTCCCTCTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(312): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGGAGGAGAGAGGAGGAGAGAGGAGGAGAGAGGAGGGAGGAGAGA GGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGG AGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGG GAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0104 a0001c0003t0028g0104	1	348	0.0029	319	c.887 others(336): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCTCTCTCCT CCCTCCTCTCTCCTCCTCTCTCCTCCTCTCTCCTCCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCG TCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTC CCTCCCTCTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NAE1_chr16_66797878_66835976	66805483	T T	TGAAAAAT others(312): Show TGAAAAATTAGCCAGGCTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGCGATCAAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATC GCGCCACTGCACTCCAGCCTGGGCAACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	376	0.0027	319	c.149 others(336): Show c.1495+293_1495+294insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGAT CGCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAGCCTGGCTAATTTTTC	NAE1	ENSG00000159593.15	transcript	ENST00000290810.8	protein_coding	19/19			chr16	TogoVar
NCAPG2_chr7_158626169_158709804	158667983	T T	TCCTTACC others(312): Show TCCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCACCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTG GCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCAC TACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	378	0.0027	319	c.148 others(338): Show c.1480-3234_1480-3233insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGG GTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGTGGAGGGACCCAGTAGTGGGTAAGGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGGTAG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668244	C C	CCTTACCT others(312): Show CCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCT ACCCTGTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	378	0.0027	319	c.147 others(338): Show c.1479+3269_1479+3270insAGGGTGGAGGGCCACAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGCCACAGGGTA GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668360	T T	TCCTTACC others(312): Show TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACA ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCA CCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTC CCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCCTTACCTA CCTTGTGTCCCTAGGCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	378	0.0027	319	c.147 others(338): Show c.1479+3153_1479+3154insGAGGGCCTAGGGACACAAGGTAGGTA AGGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCA GGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGG GCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGG TAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCK2_chr2_105739912_105899272	105836110	T T	TGGATTTC others(312): Show TGGATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01167.hp2 others(23): Show HG00738.hp1 HG01099.hp1 HG01167.hp2 HG01256.hp1 HG01928.hp2 HG01993.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02523.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 NA18941.hp2 NA18942.hp2 NA18971.hp1 NA18998.hp2 NA19004.hp1 NA19007.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029	a0001c0001t0001g0147 a0001c0001t0001g0216 a0001c0001t0001g0225 others(23): Show a0001c0001t0001g0147 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0240 a0001c0001t0002g0284 a0001c0001t0003g0286 a0001c0001t0006g0032 a0001c0001t0009g0167 a0001c0001t0009g0195 a0001c0001t0009g0238 a0001c0001t0015g0293 a0001c0001t0015g0294 a0001c0001t0019g0029 a0001c0001t0029g0239	26	334	0.0778	319	c.-16 others(338): Show c.-16-18926_-16-18925insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATTTCCTTTT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(312): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	118	0.0085	319	c.297 others(338): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAGGTTG	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(312): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGACGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	319	c.29 others(330): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGACGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(312): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02280.hp2 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03516.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18941.hp1 NA18942.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19000.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19084.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0011	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0004c0004 a0006c0007 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0010t0001 a0004c0004t0001 a0006c0007t0001 a0011c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0002 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0002 a0001c0006t0001g0001 a0001c0010t0001g0001 a0004c0004t0001g0001 a0004c0004t0001g0002 a0006c0007t0001g0001 a0011c0011t0001g0001	62	430	0.1442	319	c.29 others(330): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEGR1_chr1_71390943_72287539	72048423	T T	TTCTATCT others(312): Show TTCTATCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACAGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	64	0.0156	319	c.177 others(340): Show c.177-113113_177-113112insGGCCGGGCGCTGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGAGGTGGTGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGAAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGATAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NELL2_chr12_44503278_44881315	44670576	T T	TAAAGATA others(312): Show TAAAGATACACATAGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02258.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0157 a0001c0001t0001g0153 a0001c0001t0002g0157	2	158	0.0127	319	c.131 others(338): Show c.1319-4968_1319-4967insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAGTCTATGTGTATCTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	12/19			chr12	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(312): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAG GGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGG AGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAG GAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGA GGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	304	0.0033	319	c.563 others(338): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(312): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAA GGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATG AAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAA GGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGA GGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0001 a0001c0001t0037g0001	1	304	0.0033	319	c.563 others(338): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCCCTCTCTC CCTCCCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTT TCCTCCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTT CTCCTTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(312): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAG GGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAA AATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAA GGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGA GAGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0304 a0001c0001t0117g0304	1	304	0.0033	319	c.563 others(338): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(312): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTGCAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCAC CTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCCCTGCAGCC CACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCA GCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTC GAAGCCCACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0299 a0001c0001t0050g0299	1	366	0.0027	319	c.-16 others(340): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCCTGCAGCCCACCTTCTCCCGCAGCCCACCTTCTCTC TGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCT CCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACC TTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCA CCTTCTCCTCGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NKAIN2_chr6_123798865_124830640	124544359	C C	CAAGATGG others(312): Show CAAGATGGAGGAGAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0048 a0001c0001t0022g0048	1	66	0.0152	319	c.274 others(340): Show c.274-113811_274-113810insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGGAGGAGAAGG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGTG others(312): Show TGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAA TGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAA TTTACGAGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0005 a0002c0017t0005	a0002c0017t0005g0365 a0002c0017t0005g0365	1	424	0.0024	319	c.-65 others(334): Show c.-65-490_-65-489insGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NOC3L_chr10_94328226_94367939	94334791	A A	AGAGAATG others(312): Show AGAGAATGATTCATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0005 a0014c0014t0005	a0014c0014t0005g0067 a0014c0014t0005g0067	1	380	0.0026	319	c.219 others(334): Show c.2190-74_2190-73insGGCCGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAGAATGAATCATTCTC	NOC3L	ENSG00000173145.11	transcript	ENST00000371361.3	protein_coding	19/20			chr10	TogoVar
NOS1AP_chr1_162064691_162375475	162261297	G G	GTCCCCTT others(312): Show GTCCCCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TATATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	182	0.0055	319	c.178 others(338): Show c.178-26034_178-26033insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCC GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGCCACCGCGCCCGGCCTCCCCTTGTTCTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(312): Show ATCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0046 a0002c0002t0055g0046	1	92	0.0109	319	c.558 others(338): Show c.558+26035_558+26036insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC2_chr14_74474940_74498305	74475441	T T	TGTATTTA others(312): Show TGTATTTAACATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00609.hp2 others(49): Show HG00323.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02080.hp2 HG02135.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03654.hp1 HG03669.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18973.hp1 NA18978.hp2 NA18984.hp2 NA19010.hp2 NA19056.hp1 NA19062.hp1 NA19074.hp1 NA19084.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	52	410	0.1268	319	c.48 others(330): Show c.4832_*4833insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAATGTTAAATAC	NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding		4498		chr14	TogoVar
NPNT_chr4_105890471_105976671	105975858	T T	TCCATTTT others(312): Show TCCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGAGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0129 a0003c0003t0015g0129	1	236	0.0042	319	c.68 others(330): Show c.6868_*6869insCCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding		4188		chr4	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(312): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02300.hp1 HG02004.hp2 HG02148.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0067	3	384	0.0078	319	c.-6- others(336): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRIP1_chr21_14956235_15070000	14980613	T T	TGATCAAT others(312): Show TGATCAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	398	0.0025	319	c.-33 others(340): Show c.-334-12088_-334-12087insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATTGATC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	3/3			chr21	TogoVar
NRXN1_chr2_49913503_51037132	49949647	T T	TGAAAGTT others(312): Show TGAAAGTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp2 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0055 a0001c0001t0036 a0001c0001t0055	a0001c0001t0036g0062 a0001c0001t0055g0031 a0001c0001t0036g0062 a0001c0001t0055g0031	2	116	0.0172	319	c.412 others(338): Show c.4129-5857_4129-5856insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAACTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	49949647	T T	TGAAAGTT others(312): Show TGAAAGTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02109.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0095 a0001c0002t0010g0106 a0001c0002t0010g0095 a0001c0002t0010g0106	2	116	0.0172	319	c.412 others(338): Show c.4129-5857_4129-5856insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAACTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50375491	T T	TAATTCTG others(312): Show TAATTCTGAAGCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG03209.hp2 others(2): Show HG02055.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0004c0013t0001	a0001c0001t0017g0066 a0001c0002t0001g0112 a0001c0002t0003g0079 others(2): Show a0001c0001t0017g0066 a0001c0002t0001g0112 a0001c0002t0003g0079 a0001c0002t0013g0110 a0004c0013t0001g0111	5	116	0.0431	319	c.336 others(340): Show c.3364+89950_3364+89951insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAGCTTCAGAATT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NSDHL_chrX_152826063_152874729	152833246	C C	CAAAAGTT others(312): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp2 HG01934.hp1 others(28): Show HG00438.hp1 HG01175.hp2 HG01934.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18949.hp2 NA18987.hp2 NA18989.hp1 NA19001.hp2 NA19082.hp1 NA19086.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(14): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0022 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0006g0069	31	324	0.0957	319	c.-44 others(336): Show c.-44+2144_-44+2145insGCCGGGCGCGGTGGCTCACGCTTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAA AAAATTAGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATGTGG	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(312): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTC CCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01255.hp2 others(10): Show HG00597.hp2 HG00673.hp2 HG01255.hp2 HG01978.hp2 HG02040.hp1 HG02155.hp1 NA18612.hp2 NA18971.hp2 NA18982.hp1 NA19007.hp2 NA19011.hp2 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079	a0001c0001t0008g0003 a0001c0001t0008g0202 a0001c0001t0009g0006 others(6): Show a0001c0001t0008g0003 a0001c0001t0008g0202 a0001c0001t0009g0006 a0001c0001t0009g0209 a0001c0001t0010g0005 a0001c0001t0076g0200 a0001c0001t0077g0201 a0001c0001t0078g0210 a0001c0001t0079g0203	13	326	0.0399	319	c.433 others(336): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(312): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTTCCCCTTC CCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCTCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0198 a0001c0001t0008g0198	1	326	0.0031	319	c.433 others(336): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGAGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGGGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(312): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCCCCTCC CCCCCCTCCCCCCCCCCTCCCCCCCCCCCTCCCCCCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	326	0.0031	319	c.433 others(336): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGGGGGAGGGGGGGGGGGAGGGGGGGGGGAGGGGGGGGAGGGGG GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131789448	G G	GAAGAAAG others(312): Show GAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	86	0.0116	319	c.83- others(338): Show c.83-122111_83-122110insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar

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