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
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(352): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0039 a0001c0008t0002g0039	1	183	0.0055	359	c.129 others(378): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAATGTTTACCAG	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGCCT others(352): Show CGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 NA20752.hp1 others(1): Show HG02615.hp2 HG02895.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0026 a0001c0002t0001g0120 a0001c0002t0001g0122	4	384	0.0104	359	c.467 others(374): Show c.467-827_467-826insGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42649033	T T	TGAAAAAT others(352): Show TGAAAAATGGAACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	210	0.0048	359	c.136 others(378): Show c.136+19943_136+19944insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAATGGAACT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(352): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	240	0.0042	359	c.310 others(378): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAACACTGG	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(352): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCC GCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01167.hp2 others(1): Show HG00735.hp2 HG01106.hp1 HG01167.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	422	0.0095	359	c.31 others(370): Show c.3138_*3139insGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPIHBP1_chr8_143208218_143222170	143218309	C C	CCCCCAAC others(352): Show CCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCCAA CACCACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCAC CCCCAACACCACCCCAACACCACCCCAACACCACCCAACACCATCCCCCA CACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACCAT CCCCCACACCACCCCCAACACCACCCCCAACACCATCCCCCACACCACCC CCAACACCACCCACACTGCCCCCACACCAGCCCAACACCACCCCCAACAC CAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACC CAACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	359	c.27 others(370): Show c.2791_*2792insCCCCAACACCATCCCCAACACCCCAATAACCCCC CAACACCACCCCCAACACCACCACAACACCATCCCCAACACCACCCCCAA TACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACC CAACACCATCCCCCACACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCCCAACACCA TCCCCCACACCACCCCCAACACCACCCACACTGCCCCCACACCAGCCCAA CACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACC ACCCCCAACACCACCCAACACCATG	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1140		chr8	TogoVar
GRM1_chr6_146024062_146442601	146180181	T T	TAAAAGAT others(352): Show TAAAAGATTATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0011	1	158	0.0063	359	c.950 others(378): Show c.950+20597_950+20598insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGATTATCTG	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GSE1_chr16_85608322_85681200	85653191	C C	CCCTCCGC others(352): Show CCCTCCGCCCCCCTCCTCCTCCCCCCCCTCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTC CCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCT CCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCC CCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0179 a0001c0001t0056g0179	1	290	0.0035	359	c.427 others(376): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCCCTCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCC CCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCC TCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCTCCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCC CCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCC CCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(352): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCATCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	408	0.0025	359	c.633 others(376): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCATCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(352): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0148 a0001c0001t0014g0148	1	270	0.0037	359	c.178 others(378): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HMGCLL1_chr6_55429373_55584192	55477190	T T	TTATATAT others(352): Show TTATATATAATATATATTATATTTATATAATATATAATATATATAATATA TAATATATATTATATAATATATAATATATATTATATATATAATATATAAT ATATATAATATATAATATATATTATATAATATATATTATATAATATATAT TATATAATATATATTATATAATATATAATATATAATATATAATATATAAT ATATAAATATATAAAATATATTTATATATTATATTTATATATTATATATT ATATAATATATATTATATTTATATAATATATAATATATATAATATATAAT ATATATTATATAATTATAATATATATTATATATATATTATATAATATATA TAATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	334	0.0030	359	c.795 others(378): Show c.795+18228_795+18229insTTATATATTATATATATTATATAATA TATATATAATATATATTATAATTATATAATATATATTATATATTATATAT ATTATATATTATATAAATATAATATATATTATATAATATATAATATATAA ATATAATATATAAATATATTTTATATATTTATATATTATATATTATATAT TATATATTATATATTATATAATATATATTATATAATATATATTATATAAT ATATATTATATAATATATATTATATATTATATATATTATATATTATATAT ATAATATATATTATATATTATATAATATATATTATATATTATATATATTA TATATTATATAAATATAATATATATTATATATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33322881	T T	TGGAATAT others(352): Show TGGAATATATATACGGAATATATATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATACGGAATGTATATATACGGAATATATATATAC GGAATGTATATATACGGAATATATATATACGGAATATATATATACGGAAT ATATATATACGGAATATATATATACGGAATATATATATACGGAATATATA TATACGGAATATATATATACGGAATATATATATACGGAATATATATATAC GGAATATATATATACGGAATATATATATACGGAATATATATATACGGAAT ATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0045 a0001c0001t0044 a0001c0001t0045	a0001c0001t0044g0020 a0001c0001t0045g0129 a0001c0001t0044g0020 a0001c0001t0045g0129	2	323	0.0062	359	c.-21 others(370): Show c.-2175_-2174insGGAATATATATACGGAATATATATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATACGGAATGTATATATAC GGAATATATATATACGGAATGTATATATACGGAATATATATATACGGAAT ATATATATACGGAATATATATATACGGAATATATATATACGGAATATATA TATACGGAATATATATATACGGAATATATATATACGGAATATATATATAC GGAATATATATATACGGAATATATATATACGGAATATATATATACGGAAT ATATATATACGGAATATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2088		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(352): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAG GGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG01175.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0010 a0001c0001t0005g0011	2	282	0.0071	359	c.290 others(378): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTT TCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCT CCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(352): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGG GAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	282	0.0036	359	c.290 others(378): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTT TCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCT CCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400190	G G	GCCCTCCT others(352): Show GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCTTCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTC CTGCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0100 a0001c0001t0209g0100	1	276	0.0036	359	c.66 others(370): Show c.6643_*6644insGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAG GGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGG GCAGGAGGGGAAGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGAGGGCAGG AGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAG GGGAGGGGGCAGGAGGGGAAGAGGGCAGGAGGGGAAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGG GGCAGGAGGGGAGGGGGCAGGAGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3284		chr2	TogoVar
JAK1_chr1_64828229_64971549	64881269	T T	TATTAAAA others(352): Show TATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	326	0.0031	359	c.205 others(376): Show c.205+2007_205+2008insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAAATTTTAAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32881460	T T	TAGAATCA others(352): Show TAGAATCACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	434	0.0023	359	c.-33 others(378): Show c.-338-1519_-338-1518insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGTGATTCT	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding	1/3			chr7	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(352): Show TTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGATAAT ATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATATAGA TATTATCTATATTATAGATAATATCTATAATATAGATATAGATATTATCT ATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAATATT ATCTATATTATAGATATAGATAATATTATCTATATGATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATTATAGATATTA TCTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0368 a0008c0012t0001g0368	1	414	0.0024	359	c.480 others(374): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATCATATA GATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAA TATAGATAATATTATCTATATTATAGATATAGATAATATCTATATCTATA TTATAGATATTATCTATAATATAGATAATATCTATATTATAGATATTATC TATAATATAGATAATATCTATATTATAGATATTATCTATAATATAGATAT AGATAATATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LDAH_chr2_20679031_20828101	20738361	T T	TCTCCATA others(352): Show TCTCCATATATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	258	0.0039	359	c.703 others(376): Show c.703+1609_703+1610insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATATATATATATGGAG	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LNX1_chr4_53454301_53596486	53578919	T T	TAAAAAAT others(352): Show TAAAAAATATGATTAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGACCCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02148.hp2 NA19066.hp1 HG01952.hp2 HG02148.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0131	3	356	0.0084	359	c.-86 others(376): Show c.-86-4832_-86-4831insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGGTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCATTAATCATATTTTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	1/10			chr4	TogoVar
LRRC27_chr10_132327193_132386508	132364746	A A	ACACCCAC others(352): Show ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCA CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCAC ACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACA CCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCA CACTTACACC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0286 a0001c0001t0047g0286	1	290	0.0035	359	c.129 others(376): Show c.1290-677_1290-676insACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACCCA CCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACCCAC CCTTACATCTACCACACCCACACTTACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1940933	C C	CCCCAGGC others(352): Show CCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCT TCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCT CCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTC ACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAG GCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCT CCCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCT CCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTC CTCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	264	0.0038	359	c.159 others(378): Show c.1597-4037_1597-4036insAGAGGAAGAGGAGGGTGAGGCCTGCG GGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGA GGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGT GAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGG AGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGA GGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGG GGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCC TGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(352): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCT CCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGC CTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCG CAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	264	0.0038	359	c.159 others(378): Show c.1597-4078_1597-4077insCTGAGGCCTGCGGGGGGAGGAAGAGG AGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGA AGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGA GAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGC GGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGG CCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGA GGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAA GAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19059323	T T	TCACTTTT others(352): Show TCACTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	359	c.200 others(376): Show c.200-7382_200-7381insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCACTTTTCTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(352): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	2	362	0.0055	359	c.391 others(374): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBP_chr18_76973833_77137783	77117808	T T	TCAGTGGG others(352): Show TCAGTGGGTTGGAGTGGGATGGGTTGGAGTGGGACAGGGGACAGTGGGTT GGAGTGGGACGGGGGACATTGGGTTGGGGTGGGACGGGGGTCAGTGGGTT GGGGCGGGATGGGGGTCAGTGGGTTGGAGTGGGATGGGGGTCAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGGACAGTGGGTTG GGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGG GGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGG CGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGT GGGATGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(65): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02129.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18992.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0034 a0001c0001t0036 a0001c0001t0041 a0001c0001t0044 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0020 a0001c0003t0010 a0001c0003t0024 a0002c0005t0021 a0002c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0039 others(64): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0167 a0001c0001t0002g0302 a0001c0001t0002g0316 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0066 a0001c0001t0003g0084 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0045 a0001c0001t0004g0067 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0005g0300 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0006g0266 a0001c0001t0006g0313 a0001c0001t0007g0358 a0001c0001t0007g0362 a0001c0001t0007g0373 a0001c0001t0008g0344 a0001c0001t0008g0346 a0001c0001t0008g0355 a0001c0001t0008g0359 a0001c0001t0008g0366 a0001c0001t0008g0367 a0001c0001t0009g0017 a0001c0001t0009g0034 a0001c0001t0009g0065 a0001c0001t0009g0083 a0001c0001t0009g0133 a0001c0001t0009g0180 a0001c0001t0012g0006 a0001c0001t0014g0317 a0001c0001t0015g0340 a0001c0001t0015g0357 a0001c0001t0015g0365 a0001c0001t0015g0368 a0001c0001t0016g0350 a0001c0001t0016g0378 a0001c0001t0026g0376 a0001c0001t0034g0029 a0001c0001t0036g0200 a0001c0001t0041g0225 a0001c0001t0044g0305 a0001c0002t0002g0315 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0008g0377 a0001c0002t0020g0244 a0001c0003t0010g0005 a0001c0003t0024g0219 a0002c0005t0021g0002 a0002c0006t0001g0116	68	396	0.1717	359	c.-25 others(378): Show c.-25-12523_-25-12522insTCCCCATCCCACCCCAACCCACTGTC CCCCATCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCC CCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCC CATCCCGCCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCC ATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGACCCCCA TCCCACTCCAACCCACTGACCCCCATCCCGCCCCAACCCACTGACCCCCG TCCCACCCCAACCCAATGTCCCCCGTCCCACTCCAACCCACTGTCCCCTG TCCCACTCCAACCCATCCCACTCCAACCCACTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTPS2_chrX_21834617_21890423	21866288	T T	TGAAAAGT others(352): Show TGAAAAGTGTTCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	308	0.0033	359	c.671 others(376): Show c.671-2165_671-2164insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAGTGTTCTAG	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED13_chr17_61937605_62070278	62036481	A A	AGAAAATA others(352): Show AGAAAATAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	326	0.0031	359	c.471 others(374): Show c.471-874_471-873insGGCCGGGCGCGGTGGCTCACGCCTGTAGTC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAGTTTATTTTC	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(352): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTG GGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	359	c.26 others(369): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGT CGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(352): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA19058.hp1 NA18987.hp2 NA19058.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0034 a0002c0001t0002g0034	2	370	0.0054	359	c.360 others(376): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTGTTGGTAAATTCTT	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
MID2_chrX_107820866_107936637	107910797	C C	CCTTTCCT others(352): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT TCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	181	0.0055	359	c.107 others(378): Show c.1074-5164_1074-5163insTTTTCCTTTCCTTTCCTTTCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237544525	G G	GGGACAGT others(352): Show GGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGT GAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAACAG TGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGGCAC AGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	286	0.0035	359	c.153 others(378): Show c.1539+1868_1539+1869insACAGTGGCAAGTGGGCACAGTGGTGA GTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGA CAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGG GACAGTGGTGAGTGGGGGCACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(352): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGTGGAGGGAGTGGAAAGTGGGGGGTTGG GGGGAGTGGGGGACCTGGGGGTGGAGGAAGTGGGGGGTTGGTGGGAAGAA GGGGACCTGGGGGTGGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAG TGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAG TGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGT GGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGA GGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0144 a0001c0002t0005g0144	1	382	0.0026	359	c.-10 others(370): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCCCCCACCCCCAGGTCCCCTTCTTCCCACCAACCCCCCACTTC CTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCCACTCCCT CCACCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCA CTCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(352): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGTGGAGGGAGTGGAAAGTGGGGGGTTGG GGGGGAGTGGGGGACCTGGGGGTGGAGGAAGTGGGGGGTTGGTGGGAAGA AGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAG TGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAG TGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGT GGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGA GGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0169 a0001c0002t0005g0169	1	382	0.0026	359	c.-10 others(370): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCTTCTTCCCACCAACCCCCCACTTCC TCCACCCCCAGGTCCCCCACTCCCCCCCAACCCCCCACTTTCCACTCCCT CCACCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCA CTCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMP26_chr11_4699784_4997429	4729984	A A	ACAGCCCT others(352): Show ACAGCCCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	206	0.0049	359	c.-21 others(380): Show c.-217+24953_-217+24954insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGCCCTCATTTTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGGG others(352): Show TGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGG CGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGC GCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	388	0.0026	359	c.159 others(376): Show c.1596+146_1596+147insAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGG CGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGA GGGGGGCGTGTGGGGGGGTGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(352): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	388	0.0026	359	c.159 others(376): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(352): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTTTATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATATAATATATATTTTATAAAATATATATTATATTATATAATATAT ATTTTATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	359	c.51 others(370): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATATATTTTATATAATATATATT ATATAATATAATATATATTTTATATAATATATATTATATATAATATAATA TATATTTTATATAATATATATTATATATAATATAATATATATTTTATATA ATATATATTATATATAATATAATATATATTTTATAAAATATATATTATAT ATAATATAATATATATTTTATATAATATATATTATATATAATATAATATA TATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905991	T T	TATATAAT others(352): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTATATAAAATATATATTATATTATATAATATATATTTTAT AAAATATATATTATATTATATAATATATATTTTATAAAATATATATTATA TTATATATAATATATATTATATAAAATATATATTATATTATATAATATAT ATTATATAAAATATATATTATATTATATAATATATATTATATAAAATATA TATTATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	368	0.0027	359	c.50 others(370): Show c.5085_*5086insTAATATAATATATATTTTATATAATATATATTAT ATAATATAATATATATTTTATATAATATATATTATATAATATAATATATA TTTTATATAATATATATTATATATAATATAATATATATTTTATAAAATAT ATATTATATAATATAATATATATTTTATAAAATATATATTATATAATATA ATATATATTTTATATAATATATATTATATAATATAATATATATTTTATAT AATATATATTATATATAATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATATAATATATATTATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4853		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(352): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAG TGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACC ATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGT GGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	384	0.0026	359	c.160 others(376): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCACCACCACCACCACCACTACCAC CACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCG CCACCATCACCACCACCACCATCGCCGCCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(352): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGGTGGTG GCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAG TGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACC ATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGT GGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	384	0.0026	359	c.160 others(376): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCGCCACCACCACCACCACCAC CATCGCCGCCACCACCACCACCACCACCATCACCACCACCACCACTACTG CCACCGCCGCCACCACCACCATCACCACCACCACCATCGCCGCCACCACC ACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770621	T T	TTATATAT others(352): Show TTATATATCATAAATATAAATATATAAAAATTTATATTTATATATCATAA ATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	359	c.-28 others(370): Show c.-2873_-2872insTATATATCATAAATATAAATATATAAAAATTTAT ATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2774		chr3	TogoVar
MYT1_chr20_64159452_64247253	64173542	C C	CTAGTTGT others(352): Show CTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCT TTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCA GCATCTTTCCTTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCT GCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCT GCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCT CCTGCAGCAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	223	0.0045	359	c.-99 others(376): Show c.-99+8803_-99+8804insTAGTTGTGTCCATTTCCCCTCCCTGACT TCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTT CCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGACTTCTCCTCCTGCAGCAT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(352): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	359	c.26 others(370): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NKAPL_chr6_28254297_28265958	28257213	T T	TAAGAAAG others(352): Show TAAGAAAGGAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATG GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	420	0.0024	359	c.-21 others(370): Show c.-2159_-2158insAAGAAAGGAATGAGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	NKAPL	ENSG00000189134.4	transcript	ENST00000343684.4	protein_coding		2083		chr6	TogoVar
NME4_chr16_392199_405754	397695	T T	TGGGGGGT others(352): Show TGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	356	0.0028	359	c.91+ others(372): Show c.91+387_91+388insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGTGGGGGGGTGAGGGAGTCGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(352): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	356	0.0028	359	c.91+ others(372): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(352): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01975.hp2 HG02300.hp2 HG01346.hp2 HG01975.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0004 a0002c0010t0002 a0001c0001t0004 a0002c0010t0002	a0001c0001t0004g0157 a0002c0010t0002g0158 a0002c0010t0002g0159 a0001c0001t0004g0157 a0002c0010t0002g0158 a0002c0010t0002g0159	3	324	0.0093	359	c.140 others(376): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGAGCAA others(352): Show AGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0320 a0001c0014t0003g0320	1	324	0.0031	359	c.140 others(376): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC TCCCCCCGACCCACCCTGCACCCATTGCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(352): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0075 a0001c0002t0006g0075	1	324	0.0031	359	c.140 others(376): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCC TGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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