Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(45): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(48): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01109.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03225.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0005 a0001c0001 a0001c0008 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0008t0001 a0003c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 others(46): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0277 a0001c0001t0007g0265 a0001c0001t0008g0245 a0001c0001t0014g0260 a0001c0001t0017g0281 a0001c0008t0001g0254 a0003c0005t0001g0247	51	328	0.1555	-52	c.-38 others(67): Show c.-38+467_-38+518delCACACACACACACACACACACACACACACA CACACACACACACACACACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185453958	GATATATA others(45): Show GATATATATGATACATATATATGAGATATATATATGATACATATATATGA GAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04184.hp2 NA18945.hp2 others(5): Show HG03139.hp1 HG04184.hp2 NA18945.hp2 NA18950.hp2 NA18975.hp1 NA18984.hp1 NA19010.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0002t0044	a0001c0001t0002g0023 a0001c0001t0002g0184 a0001c0001t0005g0013 others(5): Show a0001c0001t0002g0023 a0001c0001t0002g0184 a0001c0001t0005g0013 a0001c0001t0010g0043 a0001c0002t0002g0232 a0001c0002t0002g0252 a0001c0002t0005g0238 a0001c0002t0044g0239	8	278	0.0288	-52	c.127 others(71): Show c.1278+2804_1278+2855delATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20094490	ATATATAT others(45): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	210	0.0048	-52	c.130 others(71): Show c.130+22208_130+22259delCATATATATATATATATATATATATA CATATATATATATATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MARCO_chr2_118937194_118999660	118966019	GGGAGGAG others(45): Show GGGAGGAGGACACCCTACCAGCACTGCCTGCTACCCCAGGAGGTGGCAGA CCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp2 NA20300.hp1 HG03130.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039	3	394	0.0076	-52	c.98- others(67): Show c.98-3085_98-3034delGGAGGACACCCTACCAGCACTGCCTGCTAC CCCAGGAGGTGGCAGACCTGGA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCO_chr2_118937194_118999660	118986620	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG AAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp1 HG02155.hp2 others(14): Show HG00280.hp1 HG02055.hp1 HG02155.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp2 HG03490.hp2 NA18940.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp2 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19056.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0360 a0002c0002t0001g0136 a0002c0002t0001g0148 a0002c0002t0001g0150	17	394	0.0432	-52	c.106 others(71): Show c.1064-3933_1064-3882delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAST4_chr5_66591393_67174593	66919925	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0009 a0013c0027t0009	a0013c0027t0009g0031 a0013c0027t0009g0031	1	108	0.0093	-52	c.674 others(71): Show c.674+19947_674+19998delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBP_chr18_76973833_77137783	77018805	TATCCATC others(45): Show TATCCATCTATCCATCCATCCATCCATATATCCACCCATCCATCCATCCA CTC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	396	0.0025	-52	c.140 others(69): Show c.140-1589_140-1538delGAGTGGATGGATGGATGGGTGGATATAT GGATGGATGGATGGATAGATGGAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00733.hp2 others(4): Show HG00099.hp2 HG00423.hp2 HG00733.hp2 HG01261.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0073 a0001c0001t0075	a0001c0001t0002g0107 a0001c0001t0005g0108 a0001c0001t0017g0336 others(4): Show a0001c0001t0002g0107 a0001c0001t0005g0108 a0001c0001t0017g0336 a0001c0001t0019g0331 a0001c0001t0020g0299 a0001c0001t0073g0327 a0001c0001t0075g0266	7	340	0.0206	-52	c.122 others(71): Show c.1225-1732_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MC2R_chr18_13877044_13920536	13887124	CGGGGAAG others(45): Show CGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCGGGGATG GGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0045 a0001c0001t0018 a0001c0001t0045	a0001c0001t0018g0319 a0001c0001t0045g0250 a0001c0001t0018g0319 a0001c0001t0045g0250	2	416	0.0048	-52	c.-12 others(71): Show c.-128-1530_-128-1479delTCCCATCCCCGAGGCTTCCCCAGCAG GTGGGACACAGCACACAGGCTTCCCC	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC2R_chr18_13877044_13920536	13887321	AGGGATGG others(45): Show AGGGATGGCAGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCC TCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0251 a0001c0001t0083g0251	1	416	0.0024	-52	c.-12 others(71): Show c.-128-1727_-128-1676delCGAGGCTTCCCCAGCAGGTGGGACAC AGCACACAGGCTTCCCCTGCCATCCC	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC2R_chr18_13877044_13920536	13887373	GGGGATGG others(45): Show GGGGATGGCAGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCC TCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03130.hp2 others(1): Show HG02647.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0033 a0001c0001t0018 a0001c0001t0033	a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0033g0041 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0033g0041	4	416	0.0096	-52	c.-12 others(71): Show c.-128-1779_-128-1728delTGAGGCTTCCCCAGCAGGTGGGACAC AGCACACAGGCTTCCCCTGCCATCCC	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MCCC1_chr3_183010218_183104496	183104048	CCCACCAA others(45): Show CCCACCAAGCCTACGCCCACCCGGAACTCCAGCTGGCCCGCAAGCGCCGC GCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	344	0.0029	-52	c.-46 others(63): Show c.-4660_-4609delCGCGCGGCGCTTGCGGGCCAGCTGGAGTTCCGGG TGGGCGTAGGCTTGGTGG	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding		4553		chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183206935	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGA GGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(41): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01952.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0011 a0016 a0018 a0022 a0023 a0026 a0028 a0029 a0030	a0001c0001 a0002c0002 a0003c0003 others(11): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0011c0014 a0016c0015 a0018c0019 a0022c0024 a0023c0022 a0026c0030 a0028c0027 a0029c0029 a0030c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0021 a0005c0007t0001 a0011c0014t0001 a0016c0015t0004 a0018c0019t0001 a0022c0024t0003 a0023c0022t0020 a0026c0030t0004 a0028c0027t0002 a0029c0029t0001 a0030c0028t0018	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0002g0161 a0001c0001t0012g0068 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0077 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0002g0017 a0002c0002t0002g0144 a0002c0002t0005g0171 a0003c0003t0003g0049 a0004c0004t0001g0135 a0004c0004t0002g0120 a0004c0004t0021g0149 a0005c0007t0001g0044 a0005c0007t0001g0069 a0011c0014t0001g0093 a0016c0015t0004g0125 a0018c0019t0001g0032 a0022c0024t0003g0058 a0023c0022t0020g0026 a0026c0030t0004g0165 a0028c0027t0002g0124 a0029c0029t0001g0115 a0030c0028t0018g0014	44	176	0.2500	-52	c.271 others(69): Show c.2712+621_2712+672delCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	23/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183351198	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATTTATTTATTT ATT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01169.hp1 others(41): Show HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18950.hp2 NA18957.hp1 NA18968.hp2 NA18969.hp1 NA18985.hp1 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0015 a0017 a0018 a0020 a0024 a0025	a0001c0001 a0001c0016 a0001c0023 others(16): Show a0001c0001 a0001c0016 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0007c0005 a0009c0010 a0009c0032 a0010c0009 a0011c0014 a0012c0011 a0015c0018 a0017c0017 a0018c0019 a0020c0034 a0024c0021 a0025c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0016t0025 a0001c0023t0010 a0002c0002t0005 a0002c0002t0019 a0003c0003t0003 a0004c0004t0002 a0004c0004t0021 a0004c0004t0023 a0005c0007t0001 a0005c0007t0002 a0007c0005t0001 a0007c0005t0009 a0009c0010t0002 a0009c0010t0007 a0009c0010t0013 a0009c0032t0011 a0010c0009t0001 a0010c0009t0002 a0011c0014t0001 a0011c0014t0002 a0012c0011t0002 a0015c0018t0003 a0017c0017t0001 a0018c0019t0001 a0020c0034t0001 a0024c0021t0003 a0025c0031t0003	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 others(41): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0012g0068 a0001c0016t0025g0166 a0001c0023t0010g0008 a0002c0002t0005g0171 a0002c0002t0019g0158 a0003c0003t0003g0049 a0004c0004t0002g0120 a0004c0004t0021g0149 a0004c0004t0023g0169 a0005c0007t0001g0036 a0005c0007t0001g0044 a0005c0007t0001g0069 a0005c0007t0002g0132 a0007c0005t0001g0033 a0007c0005t0001g0048 a0007c0005t0001g0053 a0007c0005t0001g0073 a0007c0005t0009g0176 a0009c0010t0002g0127 a0009c0010t0007g0159 a0009c0010t0013g0070 a0009c0010t0013g0116 a0009c0032t0011g0152 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0011c0014t0001g0093 a0011c0014t0002g0022 a0011c0014t0002g0148 a0012c0011t0002g0031 a0015c0018t0003g0045 a0015c0018t0003g0108 a0017c0017t0001g0153 a0017c0017t0001g0154 a0018c0019t0001g0032 a0020c0034t0001g0104 a0024c0021t0003g0027 a0025c0031t0003g0074	44	176	0.2500	-52	c.276 others(69): Show c.276-9620_276-9569delAATAAATAAATAAATATATATATATATA TATATATATATATATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCTP2_chr15_94226561_94488952	94243036	CACGTGTA others(45): Show CACGTGTATATGTGTATCTACACATACACGTGTATATGTGTATCTACACA TAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01496.hp1 others(20): Show HG01099.hp1 HG01169.hp2 HG01496.hp1 HG01978.hp2 HG02630.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 NA18747.hp2 NA18949.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18995.hp1 NA19002.hp1 NA19009.hp1 NA19065.hp1 NA19084.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0016 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0006t0050 a0001c0016t0047 a0002c0003t0005 a0002c0003t0008 a0002c0004t0007	a0001c0001t0001g0013 a0001c0001t0001g0238 a0001c0001t0001g0239 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0020 a0001c0001t0002g0044 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0004g0010 a0001c0001t0006g0022 a0001c0001t0040g0008 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0039 a0001c0002t0002g0018 a0001c0006t0050g0045 a0001c0016t0047g0174 a0002c0003t0005g0012 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0004t0007g0007 a0002c0004t0007g0043	23	276	0.0833	-52	c.-66 others(71): Show c.-66+11393_-66+11444delACATACACGTGTATATGTGTATCTAC ACATATACGTGTATATGTGTATCTAC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MED12L_chr3_151080664_151441653	151293586	CACACACA others(45): Show CACACACACACACACACACACACACACACACACGGTCCTAAAATGAAGCC CTT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0054 a0007c0028t0054	a0007c0028t0054g0006 a0007c0028t0054g0006	1	280	0.0036	-52	c.225 others(73): Show c.2251-56440_2251-56389delGGTCCTAAAATGAAGCCCTTACAC ACACACACACACACACACACACACACAC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED16_chr19_862963_898187	866865	ACCCCTCG others(45): Show ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0048 a0005c0011t0001g0048	1	56	0.0179	-52	c.11 others(63): Show c.1184_*1235delGTGCGGGCCCGCAGTGGGTGGACGGAGAGGAGAT GGGAGCGCTGGCGAGGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1097		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3586147	GTGTGTGT others(45): Show GTGTGTGTGAGGACACATGTCCTGTGTGTGGGTGTGAGTGTGGACACACG TGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0002 a0079 a0002 a0079	a0002c0110 a0079c0066 a0002c0110 a0079c0066	a0002c0110t0011 a0079c0066t0017 a0002c0110t0011 a0079c0066t0017	a0002c0110t0011g0253 a0079c0066t0017g0258 a0002c0110t0011g0253 a0079c0066t0017g0258	2	292	0.0069	-52	c.377 others(69): Show c.377-6270_377-6219delGCACGTGTGTCCACACTCACACCCACAC ACAGGACATGTGTCCTCACACACA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MELTF_chr3_196996740_197034817	197015135	CCTGTCCC others(45): Show CCTGTCCCCTGGGGTGGGTGCTGGCCCCTGCGGTCGCTCCTCCCCGCCTG TCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	420	0.0024	-52	c.123 others(69): Show c.1233+178_1233+229delAGACAGGCGGGGAGGAGCGACCGCAGGG GCCAGCACCCACCCCAGGGGACAG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding	9/15			chr3	TogoVar
MEP1A_chr6_46788389_46844778	46807572	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02886.hp2 HG01106.hp2 HG02257.hp2 HG02886.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0122 a0006c0005t0003g0123 a0006c0005t0003g0124 a0006c0005t0003g0122 a0006c0005t0003g0123 a0006c0005t0003g0124	3	352	0.0085	-52	c.263 others(69): Show c.263-1836_263-1785delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAA	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
METAP1D_chr2_171994953_172087430	172042762	TGTGTGTG others(45): Show TGTGTGTGTATATGTACACATATACGTGTGTGTGTGTATATGTACACATA TAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0319 a0001c0003t0006g0319	1	356	0.0028	-52	c.41- others(69): Show c.41-18727_41-18676delATATGTACACATATACGTGTGTGTGTGT ATATGTACACATATACGTGTGTGT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MFRP_chr11_119333942_119351705	119346379	AAGGGGGA others(45): Show AAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGG TCT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0225 a0001c0003t0001g0225	1	318	0.0031	-52	c.54+ others(62): Show c.54+29_55-6delAGACCCAGCACCAGTGGTCACTGCTGCCCTCAGCC CTCAAGTATCTCCCCCT	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	1/14			chr11	TogoVar
MIA2_chr14_39228915_39355694	39277696	ATATATAT others(45): Show ATATATATATATATATATATGTGTGTATATATATATATATATATATATGT GTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0002 a0015c0020t0002	a0015c0020t0002g0002 a0015c0020t0002g0002	1	368	0.0027	-52	c.201 others(69): Show c.2019+651_2019+702delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MLPH_chr2_237482251_237560322	237543478	CACGGTAG others(45): Show CACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18984.hp2 NA18979.hp2 NA18984.hp2	a0001 a0022 a0001 a0022	a0001c0022 a0022c0027 a0001c0022 a0022c0027	a0001c0022t0001 a0022c0027t0003 a0001c0022t0001 a0022c0027t0003	a0001c0022t0001g0272 a0022c0027t0003g0174 a0001c0022t0001g0272 a0022c0027t0003g0174	2	286	0.0070	-52	c.153 others(69): Show c.1539+820_1539+871delACGGTAGTGACTGGGGCGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543546	GGGACAGT others(45): Show GGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTG GGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG03486.hp2 HG02258.hp2 HG02717.hp1 HG03486.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0001 a0009c0029 a0012c0013 a0001c0001 a0009c0029 a0012c0013	a0001c0001t0002 a0009c0029t0001 a0012c0013t0002 a0001c0001t0002 a0009c0029t0001 a0012c0013t0002	a0001c0001t0002g0037 a0009c0029t0001g0124 a0012c0013t0002g0123 a0001c0001t0002g0037 a0009c0029t0001g0124 a0012c0013t0002g0123	3	286	0.0105	-52	c.153 others(69): Show c.1539+905_1539+956delCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGAGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543956	TGGGGGAC others(45): Show TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG01346.hp1 HG02258.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0003 a0014c0023t0016 a0014c0023t0003 a0014c0023t0016	a0014c0023t0003g0259 a0014c0023t0016g0104 a0014c0023t0003g0259 a0014c0023t0016g0104	2	286	0.0070	-52	c.153 others(71): Show c.1539+1302_1539+1353delGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTGGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOBP_chr3_39462680_39508027	39469153	TATGTGTG others(45): Show TATGTGTGTGTGTATACATATATACATGTGTGTGTGTGTATATACATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02027.hp1 others(25): Show HG00544.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02523.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18982.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0033 others(19): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0232 a0001c0001t0005g0034	28	400	0.0700	-52	c.-89 others(69): Show c.-89+1424_-89+1475delGTATACATATATACATGTGTGTGTGTGT ATATACATATATACATGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOXD1_chr6_132291055_132406475	132349400	TATATACA others(45): Show TATATACATATATATATATATACATATATATATATACATATATATATATA TAC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA20752.hp2 NA18987.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0266 a0001c0001t0001g0059 a0001c0001t0001g0266	2	318	0.0063	-52	c.664 others(71): Show c.664-20858_664-20807delGTATATATATATATATGTATATATAT ATATGTATATATATATATATGTATAT	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11			chr6	TogoVar
MPP7_chr10_28045993_28308064	28262207	ACATATAT others(45): Show ACATATATATATATATATACATATATATATATATATACATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0141 a0001c0001t0001g0152	2	300	0.0067	-52	c.-13 others(73): Show c.-131-23524_-131-23473delCATATATATATATATGTATATATA TATATATATGTATATATATATATATATG	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MRE11_chr11_94410570_94498844	94426414	GAATCAAA others(45): Show GAATCAAATTAACAATTTGTTAATTTAAATCAAATTAACAATTTGTTAAT TTA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	394	0.0025	-52	c.207 others(71): Show c.2070+3445_2070+3496delTAAATTAACAAATTGTTAATTTGATT TAAATTAACAAATTGTTAATTTGATT	MRE11	ENSG00000020922.13	transcript	ENST00000323929.8	protein_coding	19/19			chr11	TogoVar
MS4A14_chr11_60391459_60422756	60418983	ATATATAT others(45): Show ATATATATATATATATATATATGTATGTATATATATATATATATATATGT ATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0152	1	428	0.0023	-52	c.19 others(63): Show c.1976_*2027delTATATATATATATATATATATGTATGTATATATA TATATATATATATGTATG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1228		chr11	TogoVar
MT4_chr16_56560073_56573957	56568205	GAGAGAGA others(45): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00735.hp1 others(8): Show HG00323.hp1 HG00438.hp1 HG00735.hp1 HG01099.hp2 HG01255.hp2 HG01496.hp2 HG02132.hp1 HG02976.hp2 NA18964.hp1 NA19060.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0203 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244	11	428	0.0257	-52	c.97+ others(65): Show c.97+401_97+452delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAGAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTMR3_chr22_29878174_30035868	29906246	GTCTGTCT others(45): Show GTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTATCTAT CTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0034 a0001c0006t0034	a0001c0006t0034g0294 a0001c0006t0034g0294	1	334	0.0030	-52	c.-13 others(73): Show c.-138+22891_-138+22942delGTCTGTCTGTCTGTCTGTCTGTCT GTCTGTCTGTCTGTCTATCTATCTATCT	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTUS2_chr13_28815339_29510947	29390004	TATATATA others(45): Show TATATATACACATACATGTATGTGTATGTATGTATGTGTATATATACACA TAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(37): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00735.hp2 HG01346.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG04228.hp2 NA18944.hp2 NA18983.hp1 NA18983.hp2 NA19030.hp2 NA19084.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0014	a0001c0001 a0001c0010 a0001c0012 others(10): Show a0001c0001 a0001c0010 a0001c0012 a0002c0002 a0003c0003 a0003c0009 a0004c0008 a0004c0019 a0005c0007 a0006c0006 a0010c0021 a0011c0015 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0033 a0001c0010t0006 a0001c0012t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0013 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0003c0003t0003 a0003c0003t0008 a0003c0009t0020 a0004c0008t0009 a0004c0019t0001 a0005c0007t0018 a0006c0006t0009 a0010c0021t0008 a0011c0015t0004 a0014c0018t0015	a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 others(37): Show a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0002g0048 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0003g0038 a0001c0001t0003g0091 a0001c0001t0004g0046 a0001c0001t0005g0031 a0001c0001t0010g0090 a0001c0001t0013g0073 a0001c0001t0021g0016 a0001c0001t0033g0087 a0001c0010t0006g0004 a0001c0012t0010g0068 a0002c0002t0001g0014 a0002c0002t0001g0070 a0002c0002t0002g0057 a0002c0002t0003g0063 a0002c0002t0005g0019 a0002c0002t0006g0065 a0002c0002t0008g0092 a0002c0002t0013g0011 a0002c0002t0024g0059 a0002c0002t0025g0079 a0002c0002t0026g0036 a0002c0002t0027g0050 a0002c0002t0028g0062 a0003c0003t0003g0009 a0003c0003t0008g0069 a0003c0009t0020g0052 a0004c0008t0009g0072 a0004c0019t0001g0015 a0005c0007t0018g0028 a0006c0006t0009g0089 a0010c0021t0008g0051 a0011c0015t0004g0002 a0014c0018t0015g0027	40	92	0.4348	-52	c.311 others(73): Show c.3117+30548_3117+30599delGTATGTGTATGTATGTATGTGTAT ATATACACATACATATATACACATACAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYBPC1_chr12_101589971_101691028	101653320	CCCTCCAT others(45): Show CCCTCCATTATTCAGATGAAGGTAGAAAACAAATAAATGTACAGCAGTAC AGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0066 a0001c0012t0013g0066	1	360	0.0028	-52	c.176 others(68): Show c.1767+73_1767+124delCCTCCATTATTCAGATGAAGGTAGAAAAC AAATAAATGTACAGCAGTACAGT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding	18/31			chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47354461	CTATAAAA others(45): Show CTATAAAATGGAGTGATATTAGACTCCACATCTCAAGGTTGGCAGATACT AAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	374	0.0027	-52	c.-18 others(63): Show c.-1866_-1815delATTAGTATCTGCCAACCTTGAGATGTGGAGTCTA ATATCACTCCATTTTATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding		1760		chr11	TogoVar
MYDGF_chr19_4652545_4675342	4672234	CATATATA others(45): Show CATATATATGAATATATATTCATATATATGAATATATATATTAATATATT CAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	410	0.0024	-52	c.-19 others(63): Show c.-1952_-1901delATGAATATATTAATATATATATTCATATATATGA ATATATATTCATATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1893		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672286	TATATATA others(45): Show TATATATATACTTATATTCATATATTCATATATATACTTATATTCATATA TTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02886.hp1 HG01192.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	2	410	0.0049	-52	c.-20 others(63): Show c.-2004_-1953delGAATATATGAATATAAGTATATATATGAATATAT GAATATAAGTATATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1945		chr19	TogoVar
MYO16_chr13_108624611_109213005	108997314	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 NA20300.hp2 HG02280.hp1 HG03486.hp1 NA20300.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0045 a0003c0060 a0021c0035 a0001c0045 a0003c0060 a0021c0035	a0001c0045t0007 a0003c0060t0004 a0021c0035t0001 a0001c0045t0007 a0003c0060t0004 a0021c0035t0001	a0001c0045t0007g0051 a0003c0060t0004g0074 a0021c0035t0001g0146 a0001c0045t0007g0051 a0003c0060t0004g0074 a0021c0035t0001g0146	3	152	0.0197	-52	c.244 others(71): Show c.2442+4870_2442+4921delAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108997318	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0016 a0002c0001t0001g0016	1	152	0.0066	-52	c.244 others(71): Show c.2442+4874_2442+4925delAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109008315	ATATCTTG others(45): Show ATATCTTGTGTATGCACTACTGTACTATCTTGTGTATGCACTACTGTACT ATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG03098.hp2 HG02280.hp2 HG02622.hp2 HG03098.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0022 a0007c0006 a0001c0002 a0001c0022 a0007c0006	a0001c0002t0004 a0001c0022t0001 a0007c0006t0001 a0001c0002t0004 a0001c0022t0001 a0007c0006t0001	a0001c0002t0004g0033 a0001c0022t0001g0072 a0007c0006t0001g0050 a0001c0002t0004g0033 a0001c0022t0001g0072 a0007c0006t0001g0050	3	152	0.0197	-52	c.244 others(69): Show c.2443-476_2443-425delATCTTGTGTATGCACTACTGTACTATCT TGTGTATGCACTACTGTACTATCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109008702	TCTATCTT others(45): Show TCTATCTTGTGTATGCACTACTGTACTATCTATCTTGTGTATGCACTACT GTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00621.hp2 others(64): Show HG00099.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18964.hp2 NA18989.hp2 NA18995.hp2 NA19011.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0016 a0018 a0020 a0023 a0024 a0026	a0001c0045 a0002c0001 a0002c0009 others(27): Show a0001c0045 a0002c0001 a0002c0009 a0002c0020 a0002c0050 a0002c0051 a0002c0052 a0002c0053 a0002c0069 a0002c0070 a0003c0060 a0003c0068 a0004c0003 a0004c0026 a0004c0028 a0005c0013 a0005c0037 a0005c0038 a0009c0015 a0009c0040 a0010c0012 a0011c0021 a0012c0049 a0012c0054 a0016c0072 a0018c0030 a0020c0036 a0023c0062 a0024c0041 a0026c0071	a0001c0045t0007 a0002c0001t0001 a0002c0001t0002 others(44): Show a0001c0045t0007 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0010 a0002c0001t0013 a0002c0001t0018 a0002c0001t0019 a0002c0009t0001 a0002c0009t0003 a0002c0009t0015 a0002c0020t0001 a0002c0020t0003 a0002c0050t0003 a0002c0051t0001 a0002c0052t0001 a0002c0053t0009 a0002c0069t0022 a0002c0070t0001 a0003c0060t0004 a0003c0068t0014 a0004c0003t0001 a0004c0003t0002 a0004c0003t0005 a0004c0026t0002 a0004c0028t0001 a0005c0013t0003 a0005c0013t0008 a0005c0037t0016 a0005c0038t0001 a0009c0015t0002 a0009c0015t0005 a0009c0040t0004 a0010c0012t0001 a0010c0012t0013 a0011c0021t0001 a0011c0021t0009 a0012c0049t0002 a0012c0054t0001 a0016c0072t0001 a0018c0030t0003 a0020c0036t0001 a0023c0062t0014 a0024c0041t0001 a0026c0071t0003	a0001c0045t0007g0051 a0002c0001t0001g0016 a0002c0001t0001g0053 others(64): Show a0001c0045t0007g0051 a0002c0001t0001g0016 a0002c0001t0001g0053 a0002c0001t0001g0060 a0002c0001t0001g0096 a0002c0001t0001g0112 a0002c0001t0001g0126 a0002c0001t0001g0139 a0002c0001t0002g0005 a0002c0001t0002g0059 a0002c0001t0002g0085 a0002c0001t0002g0089 a0002c0001t0002g0095 a0002c0001t0002g0102 a0002c0001t0002g0131 a0002c0001t0002g0143 a0002c0001t0002g0144 a0002c0001t0002g0147 a0002c0001t0003g0046 a0002c0001t0003g0105 a0002c0001t0003g0123 a0002c0001t0004g0017 a0002c0001t0007g0084 a0002c0001t0010g0076 a0002c0001t0013g0136 a0002c0001t0018g0118 a0002c0001t0019g0125 a0002c0009t0001g0039 a0002c0009t0003g0003 a0002c0009t0015g0036 a0002c0020t0001g0092 a0002c0020t0003g0042 a0002c0050t0003g0093 a0002c0051t0001g0088 a0002c0052t0001g0094 a0002c0053t0009g0116 a0002c0069t0022g0073 a0002c0070t0001g0063 a0003c0060t0004g0074 a0003c0068t0014g0075 a0004c0003t0001g0087 a0004c0003t0001g0115 a0004c0003t0001g0122 a0004c0003t0002g0083 a0004c0003t0002g0109 a0004c0003t0005g0149 a0004c0026t0002g0127 a0004c0028t0001g0062 a0005c0013t0003g0029 a0005c0013t0008g0040 a0005c0037t0016g0133 a0005c0038t0001g0044 a0009c0015t0002g0137 a0009c0015t0005g0079 a0009c0040t0004g0121 a0010c0012t0001g0021 a0010c0012t0013g0013 a0011c0021t0001g0132 a0011c0021t0009g0082 a0012c0049t0002g0024 a0012c0054t0001g0020 a0016c0072t0001g0145 a0018c0030t0003g0097 a0020c0036t0001g0140 a0023c0062t0014g0128 a0024c0041t0001g0006 a0026c0071t0003g0067	67	152	0.4408	-52	c.244 others(67): Show c.2443-84_2443-33delTGTGTATGCACTACTGTACTATCTATCTTG TGTATGCACTACTGTACTATCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25759335	ATGCAGCC others(45): Show ATGCAGCCGTAAGAGAGAATGAGTTCATGTCCTTTGCAGGGACATGGATG AAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0040	1	228	0.0044	-52	c.-10 others(71): Show c.-109-1648_-109-1597delTGCAGCCGTAAGAGAGAATGAGTTCA TGTCCTTTGCAGGGACATGGATGAAG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	1/43			chr22	TogoVar
MYO5B_chr18_49817789_50200147	50043271	AATATATT others(45): Show AATATATTTATATTTATATATTATATATAATATATAATATAAATATATAA AAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG02976.hp1 others(5): Show HG02630.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0002 a0008c0055 others(1): Show a0001c0001 a0001c0002 a0008c0055 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0008c0055t0002 a0010c0018t0016	a0001c0001t0001g0018 a0001c0001t0001g0189 a0001c0001t0001g0209 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0002g0019 a0001c0002t0001g0025 a0008c0055t0002g0206 a0010c0018t0016g0142 a0010c0018t0016g0143	8	238	0.0336	-52	c.139 others(69): Show c.139-3009_139-2958delATTTTATATATTTATATTATATATTATA TATAATATATAAATATAAATATAT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	2/39			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2080818	CCGGGAGG others(45): Show CCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGGTTTGGTTCTGAT CTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02622.hp2 HG02630.hp1 others(7): Show HG00639.hp2 HG02622.hp2 HG02630.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp1 NA20300.hp2	a0001 a0002 a0011 others(4): Show a0001 a0002 a0011 a0020 a0029 a0032 a0090	a0001c0003 a0002c0006 a0011c0181 others(5): Show a0001c0003 a0002c0006 a0011c0181 a0020c0027 a0029c0183 a0032c0071 a0032c0072 a0090c0187	a0001c0003t0001 a0002c0006t0001 a0011c0181t0001 others(5): Show a0001c0003t0001 a0002c0006t0001 a0011c0181t0001 a0020c0027t0001 a0029c0183t0001 a0032c0071t0001 a0032c0072t0002 a0090c0187t0001	a0001c0003t0001g0046 a0002c0006t0001g0120 a0011c0181t0001g0388 others(7): Show a0001c0003t0001g0046 a0002c0006t0001g0120 a0011c0181t0001g0388 a0020c0027t0001g0088 a0020c0027t0001g0090 a0020c0027t0001g0091 a0029c0183t0001g0119 a0032c0071t0001g0121 a0032c0072t0002g0028 a0090c0187t0001g0022	10	403	0.0248	-52	c.151 others(71): Show c.1516+1233_1516+1284delTAGAATGAGGTTTGGTTCTGATCTGC GGGAGGAACAGGCAGCCCAGCCCGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2080907	GTTGGTTC others(45): Show GTTGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCTTGCAGAATGA GGT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18965.hp1 NA18983.hp1 others(4): Show NA18961.hp1 NA18965.hp1 NA18983.hp1 NA18987.hp1 NA19011.hp2 NA19074.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0014 a0035	a0001c0003 a0002c0025 a0003c0001 others(2): Show a0001c0003 a0002c0025 a0003c0001 a0014c0044 a0035c0125	a0001c0003t0001 a0001c0003t0004 a0002c0025t0001 others(3): Show a0001c0003t0001 a0001c0003t0004 a0002c0025t0001 a0003c0001t0001 a0014c0044t0001 a0035c0125t0001	a0001c0003t0001g0188 a0001c0003t0001g0251 a0001c0003t0004g0252 others(4): Show a0001c0003t0001g0188 a0001c0003t0001g0251 a0001c0003t0004g0252 a0002c0025t0001g0189 a0003c0001t0001g0200 a0014c0044t0001g0357 a0035c0125t0001g0356	7	403	0.0174	-52	c.151 others(71): Show c.1516+1343_1516+1394delAGGTTTGGTTCTGGCCTGCGGGAGGA ACAGGCAGCCCAGCCCTTGCAGAATG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081308	GTGCAGAA others(45): Show GTGCAGAATGAGGTTTGATTCTGGCCTGCGGGAGGAACAGGCAGCCCAGC CCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0176 a0002c0070t0001g0176	1	403	0.0025	-52	c.151 others(71): Show c.1516+1698_1516+1749delCAGAATGAGGTTTGATTCTGGCCTGC GGGAGGAACAGGCAGCCCAGCCCATG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081325	ATTCTGGC others(45): Show ATTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCATGTAGAATGAGGTT TGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0084 a0002c0041t0001g0084	1	403	0.0025	-52	c.151 others(71): Show c.1516+1747_1516+1798delATGTAGAATGAGGTTTGGTTCTGGCC TGCGGGAGGAACAGGCAGCCCAGCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085509	CGCGTGGC others(45): Show CGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATC TCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp2 NA18955.hp1 HG00280.hp2 HG01358.hp2 NA18955.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0091 a0008c0008 a0009c0012 a0001c0091 a0008c0008 a0009c0012	a0001c0091t0001 a0008c0008t0001 a0009c0012t0002 a0001c0091t0001 a0008c0008t0001 a0009c0012t0002	a0001c0091t0001g0328 a0008c0008t0001g0111 a0009c0012t0002g0305 a0001c0091t0001g0328 a0008c0008t0001g0111 a0009c0012t0002g0305	3	403	0.0074	-52	c.164 others(69): Show c.1644+130_1644+181delCCACTGTTGTGATCTCTGCGTGGCCCCA CTGTCATGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085618	CCCCCCAC others(45): Show CCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGC GTG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	403	0.0025	-52	c.164 others(69): Show c.1644+229_1644+280delCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar

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