Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LRBA_chr4_150259435_151020284	150489239	C C	CGAATATA others(305): Show CGAATATATAATATATTATATATACGAATATATAATATATTATATATACG AATATATAATATATTATATATACGTATATATAATATATTATATATACGAA TATATAATATATTATATATACGAATATATAATATATTATATATACGAATA TATAATATATTATATATACGAATATATAATATATTATATATACGAATATA TAATATATTATATATACGAATATATAATATATTATATATACGAATATATA ATATATTATATATACGAATATATAATATATTATATATACGAATATATAAT ATATTATATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0094 a0001c0013t0003g0094	1	180	0.0056	312	c.644 others(331): Show c.6449-1406_6449-1405insTTATATATAATATATTATATATTCGT ATATATAATATATTATATATTCGTATATATAATATATTATATATTCGTAT ATATAATATATTATATATTCGTATATATAATATATTATATATTCGTATAT ATAATATATTATATATTCGTATATATAATATATTATATATTCGTATATAT AATATATTATATATTCGTATATATAATATATTATATATTCGTATATATAA TATATTATATATACGTATATATAATATATTATATATTCGTATATATAATA TATTATATATTCGTATATATAATATATTATATATTC		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56						chr4	TogoVar
LRRC4C_chr11_40109209_41464652	40472454	T T	TAAAGAAG others(305): Show TAAAGAAGTGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp2 NA20129.hp1 HG02809.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0002t0001g0045 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0002t0001g0045	3	48	0.0625	312	c.-26 others(335): Show c.-269-152734_-269-152733insTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAAACACTTCTTT		LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6						chr11	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(305): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCAGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20129.hp2 HG02055.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0108 a0001c0001t0007g0084 a0001c0001t0003g0108 a0001c0001t0007g0084	2	128	0.0156	312	c.155 others(333): Show c.1552-92181_1552-92180insTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCGAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTTAGCTGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(305): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	312	c.155 others(333): Show c.1552-92181_1552-92180insTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LUC7L_chr16_183990_234449	186049	G G	GGGGAGGA others(305): Show GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGAACAGCGACACGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCG ACACGGGAGGGAGGAACAGCGACACAGGAGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGAACAGCGACACGGGAGGAACAGCGACACGGGGAACAGCGACACGGGG GGAACAGCGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	350	0.0029	312	c.31 others(323): Show c.3148_*3149insGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCGT GTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC TCCTGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2940		chr16	TogoVar
MACF1_chr1_39199695_39492138	39281485	T T	TAAAACTT others(305): Show TAAAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02572.hp1 HG02602.hp2 others(6): Show HG01106.hp1 HG02572.hp1 HG02602.hp2 HG02922.hp1 HG02976.hp2 HG03239.hp2 HG03516.hp2 HG04204.hp1 NA20300.hp2	a0006 a0036 a0006 a0036	a0006c0005 a0036c0063 a0006c0005 a0036c0063	a0006c0005t0001 a0036c0063t0001 a0006c0005t0001 a0036c0063t0001	a0006c0005t0001g0235 a0006c0005t0001g0236 a0006c0005t0001g0237 others(6): Show a0006c0005t0001g0235 a0006c0005t0001g0236 a0006c0005t0001g0237 a0006c0005t0001g0238 a0006c0005t0001g0239 a0006c0005t0001g0240 a0006c0005t0001g0242 a0006c0005t0001g0243 a0036c0063t0001g0241	9	246	0.0366	312	c.529 others(327): Show c.529-712_529-711insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAAACTTTTTT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	6/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(305): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCA CAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCCTCCACTTTACT GAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACT TTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGA GGGTTTTCCCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp2 HG03486.hp2	a0128 a0128	a0128c0170 a0128c0170	a0128c0170t0003 a0128c0170t0003	a0128c0170t0003g0005 a0128c0170t0003g0005	1	359	0.0028	312	c.798 others(319): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCC TCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTAC TTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCT TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTCCCCAG	p.Ser others(325): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgT hrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerArgSer SerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGl nSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerA rgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142			chrX	TogoVar
MARCHF3_chr5_126862714_127035558	126966470	A A	AAGGATGT others(305): Show AAGGATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02572.hp2 others(5): Show HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0040 a0001c0001t0010 a0001c0001t0027 a0001c0001t0040	a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0006 others(5): Show a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0027g0252 a0001c0001t0027g0253 a0001c0001t0040g0005	8	296	0.0270	312	c.-56 others(331): Show c.-56-48244_-56-48243insGGCCGGGCGTGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAACATCCT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4						chr5	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(305): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(35): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG01099.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03710.hp2 HG03927.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18961.hp1 NA18963.hp1 NA18972.hp1 NA18975.hp1 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19081.hp1 NA19088.hp2 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019 a0001c0002t0030 a0001c0002t0048 a0001c0002t0052 a0001c0003t0023 a0005c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0054 others(35): Show a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0170 a0001c0001t0002g0311 a0001c0001t0003g0122 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0005g0264 a0001c0001t0005g0280 a0001c0001t0006g0229 a0001c0001t0006g0285 a0001c0001t0008g0371 a0001c0001t0009g0147 a0001c0001t0010g0021 a0001c0001t0014g0284 a0001c0001t0015g0365 a0001c0001t0016g0372 a0001c0001t0026g0364 a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0154 a0001c0002t0001g0185 a0001c0002t0002g0240 a0001c0002t0002g0289 a0001c0002t0002g0297 a0001c0002t0007g0363 a0001c0002t0007g0379 a0001c0002t0007g0382 a0001c0002t0008g0369 a0001c0002t0019g0276 a0001c0002t0030g0093 a0001c0002t0048g0361 a0001c0002t0052g0388 a0001c0003t0023g0223 a0005c0007t0001g0153 a0005c0007t0001g0191	38	396	0.0960	312	c.139 others(331): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77130404	T T	TGAAGATA others(305): Show TGAAGATATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0140 a0001c0001t0011g0140	1	396	0.0025	312	c.-26 others(329): Show c.-26+2175_-26+2176insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCATATCTTC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGCATGT others(305): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGT GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATG TGGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0009 a0001c0004t0002g0009	1	424	0.0024	312	c.29 others(323): Show c.2916_*2917insCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGC AGCTCTCCTTACGCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCG GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCC ACATACGGCCTTGCAGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCC TTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTA GCTCTCCTTACCCACATGCGGGCCTTGCCACTCTCCTTACCCACATGTGG GCCTTGCAGCTCTCCTTACCCACATGCG		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2230		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGCATGT others(305): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGT GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATG TGGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0032 a0001c0001t0010 a0001c0001t0032	a0001c0001t0010g0251 a0001c0001t0032g0233 a0001c0001t0010g0251 a0001c0001t0032g0233	2	424	0.0047	312	c.29 others(323): Show c.2916_*2917insCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGC AGCTCTCCTTAAGCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCG GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCC ACATACGGCCTTGCAGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCC TTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTA GCTCTCCTTACCCACATGCGGGCCTTGCCACTCTCCTTACCCACATGTGG GCCTTGCAGCTCTCCTTACCCACATGCG		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2230		chr16	TogoVar
MCF2_chrX_139576770_139713167	139662307	A A	ACCCCTAT others(305): Show ACCCCTATAAAGATTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTG GGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0156 a0001c0002t0001g0143 a0001c0002t0001g0156	2	249	0.0080	312	c.-44 others(331): Show c.-44-10520_-44-10519insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG TCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGC CTCAAAAAAAAAAAAAAAAAAAAATCTTTATAGGGG		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	1/28						chrX	TogoVar
MCF2_chrX_139576770_139713167	139662307	A A	ACCCCTAT others(305): Show ACCCCTATAAAGATTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTG GGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02630.hp1 others(6): Show HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0005g0178 a0001c0002t0001g0235	9	249	0.0361	312	c.-44 others(331): Show c.-44-10520_-44-10519insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGA GGCTGAGGCAGGAGAATGGCGTAAACCCGGGAGGCGGAGCTTGCAGTGAG TCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGC CTCAAAAAAAAAAAAAAAAAAAAATCTTTATAGGGG		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	1/28						chrX	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(305): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0180 a0001c0001t0009g0046 a0001c0001t0006g0180 a0001c0001t0009g0046	2	316	0.0063	312	c.-27 others(329): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT		MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5						chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(305): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18906.hp1 NA18983.hp2 HG00738.hp1 NA18906.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0178 a0001c0001t0001g0272 a0001c0001t0005g0049 a0001c0001t0001g0178 a0001c0001t0001g0272 a0001c0001t0005g0049	3	316	0.0095	312	c.-27 others(329): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT		MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5						chr6	TogoVar
MECOM_chr3_169078507_169668712	169167961	T T	TAAAACAT others(305): Show TAAAACATTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0005 a0001c0001t0026g0005	1	160	0.0063	312	c.376 others(331): Show c.376-24130_376-24129insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAGAATGTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MEIS1_chr2_66430125_66578869	66431845	T T	TAGAAAAC others(305): Show TAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	246	0.0041	312	c.-40 others(323): Show c.-4012_-4011insAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT TCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAA		MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding					3279		chr2	TogoVar
METTL24_chr6_110238940_110363349	110305537	C C	CAAAAGAA others(305): Show CAAAAGAAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp1 NA18522.hp1 HG02572.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0016 a0001c0001t0016 a0001c0002t0016	a0001c0001t0016g0253 a0001c0002t0016g0048 a0001c0002t0016g0110 a0001c0001t0016g0253 a0001c0002t0016g0048 a0001c0002t0016g0110	3	268	0.0112	312	c.558 others(329): Show c.558-6388_558-6387insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAATGTCTTCTTTT		METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4						chr6	TogoVar
METTL24_chr6_110238940_110363349	110305537	C C	CAAAAGAA others(305): Show CAAAAGAAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03098.hp1 NA19087.hp2 others(1): Show HG00408.hp1 HG03098.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0007 a0001c0002t0021 others(1): Show a0001c0001t0010 a0001c0002t0007 a0001c0002t0021 a0001c0002t0029	a0001c0001t0010g0229 a0001c0002t0007g0081 a0001c0002t0021g0063 others(1): Show a0001c0001t0010g0229 a0001c0002t0007g0081 a0001c0002t0021g0063 a0001c0002t0029g0106	4	268	0.0149	312	c.558 others(329): Show c.558-6388_558-6387insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAATGTCTTCTTTT		METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4						chr6	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(305): Show AAATGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp1 HG01258.hp1 others(1): Show HG01175.hp2 HG01256.hp1 HG01258.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0053 a0001c0002t0019 a0001c0002t0053	a0001c0002t0019g0048 a0001c0002t0019g0204 a0001c0002t0019g0206 others(1): Show a0001c0002t0019g0048 a0001c0002t0019g0204 a0001c0002t0019g0206 a0001c0002t0053g0205	4	406	0.0099	312	c.88 others(323): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC		METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding					4172		chr7	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(305): Show AAATGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02056.hp1 HG02080.hp1 others(11): Show HG00741.hp1 HG02056.hp1 HG02080.hp1 HG02647.hp2 HG02886.hp2 HG03209.hp2 HG03927.hp1 NA18948.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp2 NA18970.hp1 NA19054.hp2 NA19070.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0010c0010	a0001c0002t0007 a0001c0002t0011 a0001c0003t0002 others(4): Show a0001c0002t0007 a0001c0002t0011 a0001c0003t0002 a0002c0004t0001 a0002c0004t0024 a0002c0004t0029 a0010c0010t0001	a0001c0002t0007g0004 a0001c0002t0007g0195 a0001c0002t0007g0196 others(9): Show a0001c0002t0007g0004 a0001c0002t0007g0195 a0001c0002t0007g0196 a0001c0002t0011g0181 a0001c0003t0002g0118 a0002c0004t0001g0003 a0002c0004t0001g0007 a0002c0004t0001g0152 a0002c0004t0001g0154 a0002c0004t0024g0183 a0002c0004t0029g0155 a0010c0010t0001g0003	14	406	0.0345	312	c.88 others(323): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC		METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding					4172		chr7	TogoVar
MLH3_chr14_75008775_75056467	75032863	T T	TTGGAAAG others(305): Show TTGGAAAGATAGATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0206 a0002c0023t0001g0206	1	262	0.0038	312	c.371 others(329): Show c.3715+555_3715+556insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAATCTATCTTTCCA		MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	7/12						chr14	TogoVar
MLPH_chr2_237482251_237560322	237544026	G G	GAGGGGAC others(305): Show GAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC GGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	312	c.153 others(331): Show c.1539+1367_1539+1368insAGGGGACAGTGGTGAGTGGAGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCAC GGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGA CAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MMP26_chr11_4699784_4997429	4902306	C C	CTAGAATT others(305): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGACTACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03041.hp1 HG01109.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0188 a0001c0001t0001g0065 a0001c0001t0001g0188	2	206	0.0097	312	c.-14 others(333): Show c.-144-85751_-144-85750insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGACTACATAGAATTTCTT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(305): Show CAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0215 a0001c0001t0011g0215	1	402	0.0025	312	c.14+ others(327): Show c.14+2385_14+2386insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTT		MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5						chr2	TogoVar
MOGAT1_chr2_222666658_222714930	222680442	T T	TAAAAGCA others(305): Show TAAAAGCAGTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02486.hp1 others(5): Show HG01496.hp2 HG02258.hp1 HG02486.hp1 HG02723.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 NA18906.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0010 a0001c0001 a0002c0002 a0010c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0010c0010t0001	a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0136 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0054 a0002c0002t0001g0119 a0010c0010t0001g0126	8	318	0.0252	312	c.95- others(327): Show c.95-7889_95-7888insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGCAGTGTAG		MOGAT1	ENSG00000124003.13	transcript	ENST00000446656.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPHOSPH9_chr12_123149215_123238141	123198839	A A	AAAATAAT others(305): Show AAAATAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0217 a0002c0003t0002g0217	1	266	0.0038	312	c.193 others(329): Show c.1938-506_1938-505insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATTATTT		MPHOSPH9	ENSG00000051825.15	transcript	ENST00000606320.6	protein_coding	11/23						chr12	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(305): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGC CCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGATGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0211 a0001c0008t0001g0211	1	256	0.0039	312	c.241 others(331): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCATCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(305): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCAAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGC CCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	256	0.0039	312	c.241 others(331): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(305): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	256	0.0039	312	c.241 others(331): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(305): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGC CCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG02257.hp2 others(1): Show HG00738.hp1 HG01071.hp1 HG02257.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0016 a0001c0001 a0001c0011 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0016t0001	a0001c0001t0001g0190 a0001c0001t0002g0240 a0001c0011t0001g0199 others(1): Show a0001c0001t0001g0190 a0001c0001t0002g0240 a0001c0011t0001g0199 a0001c0016t0001g0217	4	256	0.0156	312	c.241 others(331): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(305): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGATGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0089 a0001c0008t0001g0089	1	256	0.0039	312	c.241 others(331): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCATCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(305): Show GATAAATATACATGCACATGTATATGTTTATATAAATATGCACATGTATA TGTTTAGATAAATATGCACATGTATATGTTTAGATAAATATACATGCACA TGTATGTGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATA TACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTATA TGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATAAATA TACATGCACATGTATGTTTATATAGATAAATATACATGCACATGTATATG TTTATATAGATAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	362	0.0028	312	c.134 others(333): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAAATATGCACATGTATATGTTTAGATAAATATGCACATGTATATG TTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCA CATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCACA TGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATA AATATACATGCACATGTATATGTTTATATAGATAAATA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(305): Show GATAAATATACATGCACATGTATATGTTTATATAAATATGCACATGTATA TGTTTATATAAATATGCACATGTATATGTTTAGATAAATATACATGCACA TGTATGTGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATA TACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTATA TGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATAAATA TACATGCACATGTATGTTTATATAGATAAATATACATGCACATGTATATG TTTATATAGATAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03704.hp1 NA18990.hp2 HG02698.hp2 HG03704.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0323 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0323 a0001c0001t0006g0336 a0001c0001t0006g0337	3	362	0.0083	312	c.134 others(333): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAAATATGCACATGTATATGTTTATATAAATATGCACATGTATATG TTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCA CATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCACA TGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATA AATATACATGCACATGTATATGTTTATATAGATAAATA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TTATATAT others(305): Show TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATTATATATATAAAATCTTATTTTATATATTATATATATAA AATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTAT ATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATATA AAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0020 a0001c0001t0023g0020	1	330	0.0030	312	c.-5+ others(327): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATAAAATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MTARC2_chr1_220743322_220789815	220781003	A A	AAGGATTT others(305): Show AAGGATTTCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	398	0.0025	312	c.885 others(327): Show c.885-761_885-760insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGGATTTCTCTTTT		MTARC2	ENSG00000117791.16	transcript	ENST00000366913.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTPAP_chr10_30304801_30354278	30325833	T T	TCCCACCC others(305): Show TCCCACCCCACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	358	0.0028	312	c.992 others(327): Show c.992+590_992+591insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGTGGGGTGGG		MTPAP	ENSG00000107951.15	transcript	ENST00000263063.9	protein_coding	5/8						chr10	TogoVar
MTUS2_chr13_28815339_29510947	29457431	T T	TAAGAGAT others(305): Show TAAGAGATTAATCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG03041.hp2 others(4): Show HG02145.hp1 HG02615.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG06807.hp1 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0013	a0001c0001 a0002c0002 a0004c0008 others(3): Show a0001c0001 a0002c0002 a0004c0008 a0005c0006 a0007c0004 a0013c0018	a0001c0001t0003 a0002c0002t0008 a0004c0008t0009 others(3): Show a0001c0001t0003 a0002c0002t0008 a0004c0008t0009 a0005c0006t0009 a0007c0004t0001 a0013c0018t0015	a0001c0001t0003g0038 a0001c0001t0003g0086 a0002c0002t0008g0092 others(4): Show a0001c0001t0003g0038 a0001c0001t0003g0086 a0002c0002t0008g0092 a0004c0008t0009g0072 a0005c0006t0009g0089 a0007c0004t0001g0088 a0013c0018t0015g0027	7	92	0.0761	312	c.318 others(333): Show c.3184+17395_3184+17396insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAGAGATTAATCC		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC22_chr6_31005474_31040402	31013129	C C	CTTTTTTT others(305): Show CTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(55): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18960.hp1 NA18961.hp1 NA18987.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0016 a0017 others(15): Show a0002 a0016 a0017 a0023 a0033 a0041 a0042 a0046 a0047 a0050 a0052 a0063 a0071 a0109 a0112 a0114 a0117 a0132	a0002c0006 a0002c0007 a0002c0163 others(21): Show a0002c0006 a0002c0007 a0002c0163 a0016c0057 a0017c0020 a0023c0039 a0023c0164 a0033c0035 a0041c0037 a0042c0061 a0046c0158 a0046c0168 a0047c0060 a0050c0159 a0050c0160 a0052c0059 a0063c0154 a0063c0155 a0071c0157 a0109c0153 a0112c0161 a0114c0169 a0117c0165 a0132c0166	a0002c0006t0001 a0002c0007t0001 a0002c0007t0003 others(22): Show a0002c0006t0001 a0002c0007t0001 a0002c0007t0003 a0002c0163t0001 a0016c0057t0001 a0017c0020t0001 a0023c0039t0001 a0023c0164t0001 a0033c0035t0001 a0041c0037t0001 a0042c0061t0003 a0046c0158t0001 a0046c0168t0001 a0047c0060t0001 a0050c0159t0001 a0050c0160t0001 a0052c0059t0001 a0063c0154t0001 a0063c0155t0002 a0071c0157t0001 a0109c0153t0001 a0112c0161t0001 a0114c0169t0001 a0117c0165t0001 a0132c0166t0001	a0002c0006t0001g0010 a0002c0006t0001g0011 a0002c0006t0001g0024 others(42): Show a0002c0006t0001g0010 a0002c0006t0001g0011 a0002c0006t0001g0024 a0002c0006t0001g0126 a0002c0006t0001g0164 a0002c0006t0001g0169 a0002c0006t0001g0176 a0002c0007t0001g0010 a0002c0007t0001g0023 a0002c0007t0001g0024 a0002c0007t0001g0059 a0002c0007t0001g0160 a0002c0007t0001g0175 a0002c0007t0001g0199 a0002c0007t0003g0010 a0002c0163t0001g0059 a0016c0057t0001g0161 a0016c0057t0001g0162 a0017c0020t0001g0013 a0017c0020t0001g0193 a0017c0020t0001g0195 a0017c0020t0001g0198 a0023c0039t0001g0013 a0023c0039t0001g0196 a0023c0164t0001g0197 a0033c0035t0001g0043 a0033c0035t0001g0079 a0041c0037t0001g0010 a0042c0061t0003g0010 a0042c0061t0003g0166 a0046c0158t0001g0060 a0046c0168t0001g0011 a0047c0060t0001g0010 a0047c0060t0001g0060 a0050c0159t0001g0011 a0050c0160t0001g0174 a0052c0059t0001g0058 a0063c0154t0001g0170 a0063c0155t0002g0167 a0071c0157t0001g0165 a0109c0153t0001g0013 a0112c0161t0001g0194 a0114c0169t0001g0013 a0117c0165t0001g0168 a0132c0166t0001g0163	58	461	0.1258	312	c.70+ others(327): Show c.70+2367_70+2368insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTTTTTTTTTTTTTTT		MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(305): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG02148.hp1 others(1): Show HG00639.hp1 HG01123.hp1 HG02148.hp1 NA18993.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0009c0007t0025 a0001c0001t0001 a0001c0001t0002 a0009c0007t0025	a0001c0001t0001g0014 a0001c0001t0001g0143 a0001c0001t0002g0010 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0143 a0001c0001t0002g0010 a0009c0007t0025g0161	4	244	0.0164	312	c.286 others(333): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA		MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21						chr17	TogoVar
MYO1D_chr17_32487522_32882124	32572168	G G	GTATTTCC others(305): Show GTATTTCCCATTTTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCC AGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0047 a0001c0001t0012g0047	1	244	0.0041	312	c.286 others(333): Show c.2864+32918_2864+32919insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAG CGAGACTCCGTCTCAAAAAAAAAAGAAAATGGGAAATA		MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21						chr17	TogoVar
MYOZ2_chr4_119130832_119192789	119150496	T T	TAAAAATG others(305): Show TAAAAATGTGGGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	394	0.0025	312	c.77- others(325): Show c.77-360_77-359insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAATGTGGGGAGCA		MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
MYRIP_chr3_39804609_40265321	40084834	A A	ACACATCT others(305): Show ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCT ATGTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAATACACATCTATGTATTA CATATCGATAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	170	0.0059	312	c.332 others(331): Show c.332+40563_332+40564insCACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATAT CGATAATACACATCTATGTATTACATATCGATAGAT		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16						chr3	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(305): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCC TCCCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCT CCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0217 a0001c0003t0007g0217	1	223	0.0045	312	c.289 others(329): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	175698171	A A	ATGTATGT others(305): Show ATGTATGTATACATATATATGTGTATGTATACGTATGTATGTATGTATAC ATATATATGTGTATGTATACGTATATATGTATGTATACATATATATGTGT ATGTATACGTATATATGTATGTATACATATATATGTGTATGTATACGTAT ATATGTATGTATACATATATATGTGTATGTATACGTATATATGTGTATAT GTGTATGTATACATATATATGTGTATATGTGTATGTATACGTATATATGT GTATATGTGTATGTATACATATATATGTGTATATGTGTATGTATACATAT ATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0026 a0001c0001t0031g0026	1	64	0.0156	312	c.189 others(333): Show c.1897-39110_1897-39109insGTATACGTATGTATGTATGTATAC ATATATATGTGTATGTATACGTATATATGTATGTATACATATATATGTGT ATGTATACGTATATATGTATGTATACATATATATGTGTATGTATACGTAT ATATGTATGTATACATATATATGTGTATGTATACGTATATATGTGTATAT GTGTATGTATACATATATATGTGTATATGTGTATGTATACGTATATATGT GTATATGTGTATGTATACATATATATGTGTATATGTGTATGTATACATAT ATATGTGTATATGTGTATGTATACATATATATGTGTAT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(305): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAG AGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGG GAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGG GAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0067 a0001c0014t0067	a0001c0014t0067g0269 a0001c0014t0067g0269	1	348	0.0029	312	c.887 others(329): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCTCTCCTCCC TCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCT CTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(305): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG AGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGG GAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGG GAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(38): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00673.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG02074.hp1 HG02486.hp1 HG02559.hp2 HG02818.hp1 HG02818.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18950.hp1 NA18963.hp1 NA18979.hp1 NA18990.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19064.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0048 a0001c0049 a0006c0019	a0001c0001t0001 a0001c0002t0046 a0001c0004t0004 others(15): Show a0001c0001t0001 a0001c0002t0046 a0001c0004t0004 a0001c0004t0011 a0001c0004t0013 a0001c0004t0017 a0001c0004t0019 a0001c0004t0022 a0001c0004t0071 a0001c0004t0074 a0001c0004t0085 a0001c0005t0002 a0001c0011t0004 a0001c0011t0013 a0001c0011t0073 a0001c0048t0006 a0001c0049t0004 a0006c0019t0004	a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0002t0046g0124 others(38): Show a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0002t0046g0124 a0001c0004t0004g0027 a0001c0004t0004g0066 a0001c0004t0004g0070 a0001c0004t0004g0071 a0001c0004t0004g0167 a0001c0004t0004g0196 a0001c0004t0004g0209 a0001c0004t0004g0222 a0001c0004t0004g0225 a0001c0004t0004g0235 a0001c0004t0004g0237 a0001c0004t0004g0276 a0001c0004t0004g0280 a0001c0004t0004g0301 a0001c0004t0004g0335 a0001c0004t0011g0077 a0001c0004t0011g0248 a0001c0004t0013g0152 a0001c0004t0013g0250 a0001c0004t0013g0264 a0001c0004t0013g0287 a0001c0004t0017g0202 a0001c0004t0019g0236 a0001c0004t0019g0238 a0001c0004t0019g0324 a0001c0004t0022g0127 a0001c0004t0022g0268 a0001c0004t0071g0032 a0001c0004t0074g0255 a0001c0004t0085g0134 a0001c0005t0002g0128 a0001c0005t0002g0130 a0001c0011t0004g0330 a0001c0011t0013g0171 a0001c0011t0073g0288 a0001c0048t0006g0045 a0001c0049t0004g0074 a0006c0019t0004g0283	41	348	0.1178	312	c.887 others(329): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCT CTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(305): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGAGGAGGGAGGAG AGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGG GAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGG GAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0077 a0001c0004t0077	a0001c0004t0077g0306 a0001c0004t0077g0306	1	348	0.0029	312	c.887 others(329): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCCCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCT CTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(305): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGCGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG AGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGG GAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGG GAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	348	0.0029	312	c.887 others(329): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCCTCC TCTCTCCTCCCTCCTCCTCCCTCCTCCTCCCGCCCTCCTCCCTCCCTCCT CCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCT CTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar

Search by Variant

Search

Search Results