Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(37): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA19000.hp1 HG01256.hp2 HG01258.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0040 a0002c0003t0003g0052 a0002c0003t0003g0056 a0002c0003t0003g0040 a0002c0003t0003g0052 a0002c0003t0003g0056	3	372	0.0081	44	c.371 others(61): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCGCGCG CACACACACACACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MUC4_chr3_195741771_195816929	195762713	G G	GGCACCGC others(37): Show GGCACCGCCACGCGCCCGGCCCTGCACCACAACGCACCCGGCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(119): Show a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0048 a0049 a0050 a0053 a0055 a0057 a0064 a0065 a0066 a0072 a0074 a0075 a0076 a0077 a0078 a0079 a0081 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0094 a0095 a0096 a0098 a0099 a0100 a0101 a0102 a0106 a0107 a0108 a0110 a0111 a0113 a0114 a0115 a0116 a0117 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0133 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0147 a0148 a0149 a0150 a0151 a0152 a0153 a0154 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0172 a0173 a0174 a0182 a0183 a0184 a0185 a0186 a0187	a0002c0002 a0002c0098 a0002c0099 others(128): Show a0002c0002 a0002c0098 a0002c0099 a0002c0100 a0004c0004 a0004c0017 a0005c0015 a0007c0007 a0008c0086 a0008c0087 a0008c0115 a0009c0006 a0010c0005 a0014c0022 a0015c0023 a0016c0024 a0017c0018 a0018c0011 a0019c0014 a0020c0062 a0020c0067 a0021c0039 a0021c0097 a0022c0096 a0022c0101 a0023c0013 a0024c0012 a0025c0010 a0048c0146 a0049c0145 a0050c0147 a0053c0144 a0055c0143 a0057c0148 a0064c0195 a0065c0196 a0066c0177 a0072c0173 a0074c0167 a0075c0166 a0076c0168 a0077c0169 a0078c0193 a0079c0192 a0081c0189 a0083c0190 a0084c0187 a0085c0188 a0086c0185 a0087c0184 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183 a0094c0178 a0095c0025 a0096c0130 a0098c0027 a0099c0119 a0100c0120 a0101c0123 a0102c0122 a0106c0040 a0107c0041 a0108c0117 a0110c0044 a0111c0045 a0113c0047 a0114c0052 a0115c0051 a0116c0056 a0117c0079 a0119c0078 a0120c0060 a0121c0057 a0122c0058 a0123c0059 a0124c0080 a0125c0082 a0126c0081 a0127c0127 a0128c0114 a0129c0038 a0130c0125 a0131c0076 a0133c0088 a0134c0105 a0135c0103 a0136c0113 a0137c0104 a0138c0102 a0139c0095 a0140c0089 a0141c0068 a0142c0074 a0143c0090 a0144c0071 a0147c0063 a0148c0073 a0149c0069 a0150c0093 a0151c0083 a0152c0094 a0153c0091 a0154c0092 a0156c0106 a0157c0107 a0158c0084 a0159c0077 a0160c0064 a0161c0066 a0162c0065 a0163c0061 a0164c0049 a0165c0108 a0166c0109 a0167c0054 a0168c0055 a0169c0053 a0170c0110 a0171c0111 a0172c0050 a0173c0048 a0174c0116 a0182c0042 a0183c0118 a0184c0126 a0185c0029 a0186c0128 a0187c0026	a0002c0002t0001 a0002c0098t0001 a0002c0099t0001 others(128): Show a0002c0002t0001 a0002c0098t0001 a0002c0099t0001 a0002c0100t0001 a0004c0004t0001 a0004c0017t0001 a0005c0015t0002 a0007c0007t0003 a0008c0086t0001 a0008c0087t0001 a0008c0115t0001 a0009c0006t0001 a0010c0005t0001 a0014c0022t0004 a0015c0023t0003 a0016c0024t0003 a0017c0018t0010 a0018c0011t0001 a0019c0014t0001 a0020c0062t0001 a0020c0067t0001 a0021c0039t0001 a0021c0097t0001 a0022c0096t0001 a0022c0101t0001 a0023c0013t0001 a0024c0012t0001 a0025c0010t0001 a0048c0146t0004 a0049c0145t0008 a0050c0147t0004 a0053c0144t0001 a0055c0143t0001 a0057c0148t0008 a0064c0195t0003 a0065c0196t0003 a0066c0177t0004 a0072c0173t0004 a0074c0167t0001 a0075c0166t0001 a0076c0168t0001 a0077c0169t0013 a0078c0193t0003 a0079c0192t0004 a0081c0189t0011 a0083c0190t0004 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0087c0184t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003 a0094c0178t0004 a0095c0025t0001 a0096c0130t0004 a0098c0027t0001 a0099c0119t0001 a0100c0120t0001 a0101c0123t0001 a0102c0122t0001 a0106c0040t0001 a0107c0041t0001 a0108c0117t0001 a0110c0044t0001 a0111c0045t0001 a0113c0047t0001 a0114c0052t0001 a0115c0051t0001 a0116c0056t0001 a0117c0079t0001 a0119c0078t0001 a0120c0060t0001 a0121c0057t0001 a0122c0058t0001 a0123c0059t0001 a0124c0080t0001 a0125c0082t0001 a0126c0081t0001 a0127c0127t0001 a0128c0114t0002 a0129c0038t0001 a0130c0125t0001 a0131c0076t0001 a0133c0088t0001 a0134c0105t0001 a0135c0103t0001 a0136c0113t0011 a0137c0104t0001 a0138c0102t0001 a0139c0095t0001 a0140c0089t0001 a0141c0068t0001 a0142c0074t0001 a0143c0090t0001 a0144c0071t0001 a0147c0063t0001 a0148c0073t0001 a0149c0069t0001 a0150c0093t0001 a0151c0083t0001 a0152c0094t0002 a0153c0091t0001 a0154c0092t0016 a0156c0106t0001 a0157c0107t0001 a0158c0084t0001 a0159c0077t0001 a0160c0064t0001 a0161c0066t0001 a0162c0065t0001 a0163c0061t0001 a0164c0049t0001 a0165c0108t0001 a0166c0109t0001 a0167c0054t0001 a0168c0055t0001 a0169c0053t0001 a0170c0110t0001 a0171c0111t0001 a0172c0050t0001 a0173c0048t0001 a0174c0116t0001 a0182c0042t0001 a0183c0118t0001 a0184c0126t0001 a0185c0029t0001 a0186c0128t0001 a0187c0026t0001	a0002c0002t0001g0002 a0002c0002t0001g0120 a0002c0002t0001g0128 others(150): Show a0002c0002t0001g0002 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0167 a0002c0098t0001g0122 a0002c0099t0001g0172 a0002c0100t0001g0121 a0004c0004t0001g0075 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0017t0001g0104 a0004c0017t0001g0105 a0005c0015t0002g0070 a0005c0015t0002g0085 a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0008c0086t0001g0163 a0008c0087t0001g0127 a0008c0115t0001g0106 a0009c0006t0001g0101 a0009c0006t0001g0102 a0009c0006t0001g0133 a0010c0005t0001g0063 a0010c0005t0001g0064 a0010c0005t0001g0066 a0014c0022t0004g0245 a0014c0022t0004g0246 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0017c0018t0010g0003 a0017c0018t0010g0004 a0018c0011t0001g0177 a0018c0011t0001g0178 a0019c0014t0001g0072 a0019c0014t0001g0100 a0020c0062t0001g0147 a0020c0067t0001g0090 a0021c0039t0001g0124 a0021c0097t0001g0118 a0022c0096t0001g0077 a0022c0101t0001g0130 a0023c0013t0001g0076 a0023c0013t0001g0113 a0024c0012t0001g0114 a0024c0012t0001g0156 a0025c0010t0001g0078 a0025c0010t0001g0141 a0048c0146t0004g0233 a0049c0145t0008g0055 a0050c0147t0004g0231 a0053c0144t0001g0008 a0055c0143t0001g0007 a0057c0148t0008g0198 a0064c0195t0003g0207 a0065c0196t0003g0208 a0066c0177t0004g0226 a0072c0173t0004g0225 a0074c0167t0001g0067 a0075c0166t0001g0176 a0076c0168t0001g0082 a0077c0169t0013g0184 a0078c0193t0003g0213 a0079c0192t0004g0242 a0081c0189t0011g0206 a0083c0190t0004g0241 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0087c0184t0003g0215 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205 a0094c0178t0004g0235 a0095c0025t0001g0137 a0096c0130t0004g0238 a0098c0027t0001g0199 a0099c0119t0001g0031 a0100c0120t0001g0091 a0101c0123t0001g0183 a0102c0122t0001g0052 a0106c0040t0001g0160 a0107c0041t0001g0179 a0108c0117t0001g0165 a0110c0044t0001g0083 a0111c0045t0001g0187 a0113c0047t0001g0126 a0114c0052t0001g0138 a0115c0051t0001g0134 a0116c0056t0001g0131 a0117c0079t0001g0157 a0119c0078t0001g0099 a0120c0060t0001g0092 a0121c0057t0001g0108 a0122c0058t0001g0142 a0123c0059t0001g0115 a0124c0080t0001g0201 a0125c0082t0001g0200 a0126c0081t0001g0202 a0127c0127t0001g0158 a0128c0114t0002g0084 a0129c0038t0001g0148 a0130c0125t0001g0065 a0131c0076t0001g0097 a0133c0088t0001g0135 a0134c0105t0001g0139 a0135c0103t0001g0111 a0136c0113t0011g0088 a0137c0104t0001g0087 a0138c0102t0001g0129 a0139c0095t0001g0080 a0140c0089t0001g0071 a0141c0068t0001g0073 a0142c0074t0001g0096 a0143c0090t0001g0164 a0144c0071t0001g0095 a0147c0063t0001g0149 a0148c0073t0001g0150 a0149c0069t0001g0162 a0150c0093t0001g0119 a0151c0083t0001g0117 a0152c0094t0002g0123 a0153c0091t0001g0053 a0154c0092t0016g0247 a0156c0106t0001g0144 a0157c0107t0001g0145 a0158c0084t0001g0136 a0159c0077t0001g0098 a0160c0064t0001g0151 a0161c0066t0001g0153 a0162c0065t0001g0056 a0163c0061t0001g0161 a0164c0049t0001g0054 a0165c0108t0001g0081 a0166c0109t0001g0174 a0167c0054t0001g0110 a0168c0055t0001g0086 a0169c0053t0001g0132 a0170c0110t0001g0103 a0171c0111t0001g0051 a0172c0050t0001g0203 a0173c0048t0001g0146 a0174c0116t0001g0107 a0182c0042t0001g0143 a0183c0118t0001g0182 a0184c0126t0001g0089 a0185c0029t0001g0155 a0186c0128t0001g0170 a0187c0026t0001g0050	154	249	0.6185	44	c.143 others(62): Show c.14344+98_14344+141dupAGGGCCGGGTGCGTTGTGGTGCAGGGC CGGGCGCGTGGCGGTGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195816101	G G	GCAGGTGC others(37): Show GCAGGTGCCACATCCTCCTGCCCAGCCCGGCCTCCTTCTCCTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01346.hp2 others(4): Show HG01192.hp1 HG01192.hp2 HG01346.hp2 HG02145.hp2 HG02257.hp1 HG02895.hp1 HG03130.hp2	a0058 a0059 a0067 others(4): Show a0058 a0059 a0067 a0093 a0094 a0096 a0157	a0058c0200 a0059c0201 a0067c0194 others(4): Show a0058c0200 a0059c0201 a0067c0194 a0093c0179 a0094c0178 a0096c0130 a0157c0107	a0058c0200t0015 a0059c0201t0009 a0067c0194t0012 others(4): Show a0058c0200t0015 a0059c0201t0009 a0067c0194t0012 a0093c0179t0012 a0094c0178t0004 a0096c0130t0004 a0157c0107t0001	a0058c0200t0015g0234 a0059c0201t0009g0237 a0067c0194t0012g0239 others(4): Show a0058c0200t0015g0234 a0059c0201t0009g0237 a0067c0194t0012g0239 a0093c0179t0012g0236 a0094c0178t0004g0235 a0096c0130t0004g0238 a0157c0107t0001g0145	7	249	0.0281	44	c.-42 others(55): Show c.-4285_-4284insGTAAGGAGAAGGAGGCCGGGCTGGGCAGGAGGAT GTGGCACCTG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4173		chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATAAGTA others(37): Show TATAAGTATATATATAAATATATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18612.hp2 NA18939.hp2 others(2): Show HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18975.hp1 NA18978.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0006t0004	a0001c0002t0001g0122 a0001c0002t0002g0101 a0001c0002t0003g0098 others(2): Show a0001c0002t0001g0122 a0001c0002t0002g0101 a0001c0002t0003g0098 a0004c0006t0004g0062 a0004c0006t0004g0123	5	326	0.0153	44	c.358 others(61): Show c.358+3436_358+3437insAGTATATATATAAATATATATTTAAATA TAAGTATATAGAAATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690733	T T	TATAAGTA others(37): Show TATAAGTATATATATAAATATATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0091 a0001c0001t0030g0091	1	326	0.0031	44	c.358 others(61): Show c.358+3468_358+3469insAGTATATATATAAATATATATTTAAATA TAAGTATATAGAAATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(37): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	230	0.0044	44	c.163 others(61): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843550	G G	GAGGAAGG others(37): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	230	0.0044	44	c.163 others(61): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXD4_chr4_2242432_2267109	2243915	A A	AACAGAGA others(37): Show AACAGAGAGACAGAGACAGAGAGACAGAGACAGAGACAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02965.hp2 HG02145.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	366	0.0055	44	c.66 others(55): Show c.6628_*6629insGTCTCTCTGTCTCTGTCTCTGTCTCTCTGTCTCT GTCTCTCTGT	MXD4	ENSG00000123933.17	transcript	ENST00000337190.7	protein_coding		3516		chr4	TogoVar
MXRA5_chrX_3303565_3351652	3316086	C C	CAGCGGCT others(37): Show CAGCGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGTCCAGGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0159 a0006c0008t0003g0160 a0006c0008t0003g0159 a0006c0008t0003g0160	2	284	0.0070	44	c.657 others(63): Show c.6578+1016_6578+1017insCACCTGGACCTCCCAAAATGCTGGGA TTACAGGCGTGAGCCGCT	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3316086	C C	CGGCGGCT others(37): Show CGGCGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGTCCAGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02559.hp1 others(10): Show HG01109.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA20300.hp1	a0004 a0006 a0008 others(3): Show a0004 a0006 a0008 a0021 a0022 a0032	a0004c0004 a0006c0008 a0008c0021 others(3): Show a0004c0004 a0006c0008 a0008c0021 a0021c0018 a0022c0019 a0032c0036	a0004c0004t0003 a0006c0008t0003 a0008c0021t0001 others(3): Show a0004c0004t0003 a0006c0008t0003 a0008c0021t0001 a0021c0018t0007 a0022c0019t0001 a0032c0036t0007	a0004c0004t0003g0149 a0004c0004t0003g0150 a0004c0004t0003g0151 others(10): Show a0004c0004t0003g0149 a0004c0004t0003g0150 a0004c0004t0003g0151 a0004c0004t0003g0152 a0004c0004t0003g0153 a0004c0004t0003g0154 a0004c0004t0003g0155 a0004c0004t0003g0156 a0006c0008t0003g0142 a0008c0021t0001g0147 a0021c0018t0007g0134 a0022c0019t0001g0133 a0032c0036t0007g0158	13	284	0.0458	44	c.657 others(63): Show c.6578+1016_6578+1017insCACCTGGACCTCCCAAAATGCTGGGA TTACAGGCGTGAGCCGCC	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MYBBP1A_chr17_4533904_4560384	4544674	A A	ACGGGGGT others(37): Show ACGGGGGTGGGCGCACAGGGAGGCGGGGGTGGGCGCACAGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG03579.hp1 HG01891.hp1 HG02922.hp1 HG03579.hp1	a0004 a0033 a0004 a0033	a0004c0024 a0033c0098 a0004c0024 a0033c0098	a0004c0024t0002 a0004c0024t0005 a0033c0098t0013 a0004c0024t0002 a0004c0024t0005 a0033c0098t0013	a0004c0024t0002g0109 a0004c0024t0005g0326 a0033c0098t0013g0063 a0004c0024t0002g0109 a0004c0024t0005g0326 a0033c0098t0013g0063	3	474	0.0063	44	c.248 others(59): Show c.2481+33_2482-29dupCCTCCCTGTGCGCCCACCCCCGCCTCCCTG TGCGCCCACCCCCG	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	18/25			chr17	TogoVar
MYBPC3_chr11_47326406_47357702	47348908	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01071.hp1 others(6): Show HG00558.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG02451.hp2 HG02523.hp2 HG04184.hp1 NA19009.hp2 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0001c0001t0001 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0140 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0001t0001g0218 a0001c0002t0001g0108 a0001c0002t0001g0174 a0003c0006t0001g0131	9	374	0.0241	44	c.655 others(59): Show c.655-368_655-367insTATATATATATATATATATATATATATATA TATATATATATATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYCBP2_chr13_77039657_77332094	77294104	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0001 a0018c0042t0001	a0018c0042t0001g0109 a0018c0042t0001g0109	1	334	0.0030	44	c.378 others(61): Show c.378+2494_378+2495insTATATATGTATATATATATATATATATA TATATATATATATATA	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYL10_chr7_101608330_101634296	101609713	C C	CTCCCTGC others(37): Show CTCCCTGCCTCCCTTCCTCCATTCCTCCCTCCCTCCCTTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(58): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18939.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19065.hp2 NA19085.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp2	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0010	a0001c0001 a0001c0002 a0008c0005 others(2): Show a0001c0001 a0001c0002 a0008c0005 a0009c0010 a0010c0011	a0001c0001t0001 a0001c0002t0001 a0008c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0008c0005t0001 a0009c0010t0001 a0010c0011t0001	a0001c0001t0001g0043 a0001c0002t0001g0002 a0001c0002t0001g0007 others(35): Show a0001c0001t0001g0043 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0067 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0224 a0008c0005t0001g0144 a0009c0010t0001g0213 a0010c0011t0001g0141	61	398	0.1533	44	c.37 others(55): Show c.3761_*3762insTGGAGGAAGGGAGGGAGGGAGGAATGGAGGAAGG GAGGCAGGGA	MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding		3616		chr7	TogoVar
MYL12B_chr18_3257133_3283461	3281910	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	430	0.0023	44	c.39 others(55): Show c.3973_*3974insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	MYL12B	ENSG00000118680.14	transcript	ENST00000237500.10	protein_coding		3450		chr18	TogoVar
MYMK_chr9_133509586_133529959	133510355	C C	CTTTTTTT others(37): Show CTTTTTTTTTTGGTGTATTTCATCGGCAACGCCACCCATGTGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	456	0.0022	44	c.42 others(55): Show c.4280_*4281insAGTCACATGGGTGGCGTTGCCGATGAAATACACC AAAAAAAAAA	MYMK	ENSG00000187616.5	transcript	ENST00000339996.4	protein_coding		4230		chr9	TogoVar
MYO16_chr13_108624611_109213005	109010957	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18964.hp1 HG03453.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0101 a0001c0002t0015g0038 a0001c0002t0002g0101 a0001c0002t0015g0038	2	152	0.0132	44	c.259 others(63): Show c.2595+1927_2595+1928insATATATATATATATATATATATATAT ATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023644	A A	AATATATG others(37): Show AATATATGTATATATGTATATATGCAAATATATGTATATATACAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02717.hp2 HG01943.hp1 HG02717.hp2	a0001 a0008 a0001 a0008	a0001c0066 a0008c0023 a0001c0066 a0008c0023	a0001c0066t0004 a0008c0023t0001 a0001c0066t0004 a0008c0023t0001	a0001c0066t0004g0065 a0008c0023t0001g0103 a0001c0066t0004g0065 a0008c0023t0001g0103	2	152	0.0132	44	c.279 others(63): Show c.2796+3756_2796+3799dupGCAAATATATGTATATATACATATAT ATGTATATATGTATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25948523	T T	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0009 a0009	a0009c0060 a0009c0060	a0009c0060t0002 a0009c0060t0002	a0009c0060t0002g0065 a0009c0060t0002g0065	1	228	0.0044	44	c.574 others(61): Show c.5748+698_5748+699insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25948527	T T	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG02615.hp1 HG02970.hp2	a0009 a0030 a0009 a0030	a0009c0094 a0030c0028 a0009c0094 a0030c0028	a0009c0094t0002 a0030c0028t0001 a0009c0094t0002 a0030c0028t0001	a0009c0094t0002g0120 a0030c0028t0001g0107 a0009c0094t0002g0120 a0030c0028t0001g0107	2	228	0.0088	44	c.574 others(61): Show c.5748+722_5748+723insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1C_chr17_1459186_1497686	1488510	C C	CCTCTCCC others(37): Show CCTCTCCCAACCTCATACCCCCCAGCAGGCCCTGGTGTGTGATGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0302 a0002c0002t0002g0302	1	430	0.0023	44	c.75+ others(59): Show c.75+3902_75+3903insACATCACACACCAGGGCCTGCTGGGGGGTA TGAGGTTGGGAGAG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	1/31			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0021 a0001c0004t0002g0021	1	226	0.0044	44	c.110 others(63): Show c.1107+1224_1107+1225insTATACACATACACACACACACACACA CACACACACACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282909	G G	GGGAGGGG others(37): Show GGGAGGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	226	0.0044	44	c.4-1 others(59): Show c.4-10461_4-10460insTCCCCCTCCCCCCTCCCCCCCTCCCCCTCC CCCCTCCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282911	A A	AGGGGGGG others(37): Show AGGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	226	0.0044	44	c.4-1 others(59): Show c.4-10463_4-10462insCCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCTCCCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282916	G G	GGGAGGGG others(37): Show GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	226	0.0044	44	c.4-1 others(59): Show c.4-10468_4-10467insTCCCCCTCCCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1H_chr12_109342900_109453379	109443220	G G	GTGTGTAT others(37): Show GTGTGTATATATGTGTACGTATGTGTGTGTATATGTGTACGTATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02145.hp1 HG01243.hp2 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203	3	312	0.0096	44	c.268 others(61): Show c.2689-289_2689-288insATATATGTGTACGTATGTGTGTGTATAT GTGTACGTATATGTGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO6_chr6_75744239_75924537	75924529	A A	ATAATATA others(37): Show ATAATATAATTATATAATATAATTAATATAATTATATAATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0065 a0001c0001t0067g0065	1	358	0.0028	44	c.95 others(55): Show c.9517_*9518insTAATATAATTATATAATATAATTAATATAATTAT ATAATATAAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding		4993		chr6	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTTG others(37): Show GGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0214 a0003c0001t0001g0214	1	356	0.0028	44	c.415 others(61): Show c.4152+638_4152+639insTAGTTGTGATGGTGGAGGTAGTGATGCT GTTGGTGATGGTGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO9A_chr15_71817291_72123150	71910116	G G	GTATATAT others(37): Show GTATATATATACACGTATATATATACACGTATATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	308	0.0033	44	c.268 others(63): Show c.2686-5111_2686-5110insTACACGTATATATATACGTGTATATA TATACGTGTATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71910168	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATACGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0015 a0006c0007t0015	a0006c0007t0015g0075 a0006c0007t0015g0075	1	308	0.0033	44	c.268 others(63): Show c.2686-5163_2686-5162insTATATATATATATACACACGTATATA TATATATATATATATACA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0049 a0007c0008t0049	a0007c0008t0049g0208 a0007c0008t0049g0208	1	308	0.0033	44	c.218 others(63): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02145.hp1 HG01928.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0094 a0001c0002t0001g0007 a0001c0002t0001g0094	2	240	0.0083	44	c.730 others(61): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482847	A A	ATATATAT others(37): Show ATATATATATATAAATAATTATATATATATATATATATAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0003 a0005c0020t0001g0003	1	240	0.0042	44	c.-65 others(53): Show c.-654_-653insATTATTTATATATATATATATATATAATTATTTATA TATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		514		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3165553	C C	CAAAGCCT others(37): Show CAAAGCCTCTAATTCTTTAAATGTAACTTCTAATTCTAAGCCTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0003 a0015c0030t0003	a0015c0030t0003g0173 a0015c0030t0003g0174 a0015c0030t0003g0173 a0015c0030t0003g0174	2	330	0.0061	44	c.134 others(63): Show c.1340-1115_1340-1114insTGAGGCTTAGAATTAGAAGTTACATT TAAAGAATTAGAGGCTTT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	9/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3193357	T T	TGTACATA others(37): Show TGTACATATACATATATATATACATATACATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0181 a0001c0181	a0001c0181t0002 a0001c0181t0002	a0001c0181t0002g0019 a0001c0181t0002g0019	1	330	0.0030	44	c.431 others(59): Show c.431+460_431+461insGTGTGTGTATATATATGTATATGTATATAT ATATGTATATGTAC	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	3/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085587	G G	GGCACCCC others(37): Show GGCACCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0024 a0024	a0024c0055 a0024c0055	a0024c0055t0001 a0024c0055t0001	a0024c0055t0001g0144 a0024c0055t0001g0144	1	403	0.0025	44	c.164 others(61): Show c.1644+197_1644+198insGCACCCCACTGTCATGATCTCTGCGTGG CCCCACTGTCATGATC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2089227	T T	TCAAGGTT others(37): Show TCAAGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00741.hp2 others(59): Show HG00140.hp2 HG00544.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01169.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02735.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0013 a0014 a0018 a0019 a0033 a0039 a0045 a0049 a0053 a0072 a0077 a0078 a0079 a0094	a0001c0002 a0001c0003 a0001c0009 others(31): Show a0001c0002 a0001c0003 a0001c0009 a0001c0024 a0001c0137 a0001c0138 a0001c0140 a0002c0025 a0002c0045 a0003c0164 a0005c0005 a0005c0142 a0006c0013 a0006c0204 a0006c0205 a0007c0047 a0009c0165 a0010c0206 a0010c0207 a0013c0074 a0014c0044 a0014c0139 a0018c0018 a0019c0211 a0033c0046 a0039c0029 a0045c0208 a0049c0203 a0053c0185 a0072c0143 a0077c0135 a0078c0115 a0079c0136 a0094c0061	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(37): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0009t0001 a0001c0024t0002 a0001c0137t0002 a0001c0138t0001 a0001c0140t0001 a0002c0025t0001 a0002c0025t0002 a0002c0045t0002 a0003c0164t0001 a0005c0005t0001 a0005c0142t0001 a0006c0013t0001 a0006c0204t0002 a0006c0205t0001 a0007c0047t0001 a0009c0165t0003 a0010c0206t0001 a0010c0207t0001 a0013c0074t0001 a0014c0044t0001 a0014c0139t0001 a0018c0018t0001 a0018c0018t0003 a0019c0211t0002 a0033c0046t0001 a0033c0046t0002 a0039c0029t0001 a0045c0208t0001 a0049c0203t0001 a0053c0185t0001 a0072c0143t0001 a0077c0135t0001 a0078c0115t0001 a0079c0136t0001 a0094c0061t0001	a0001c0002t0001g0322 a0001c0002t0002g0201 a0001c0002t0002g0202 others(59): Show a0001c0002t0001g0322 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0032 a0001c0003t0001g0188 a0001c0003t0001g0198 a0001c0003t0001g0213 a0001c0003t0001g0251 a0001c0003t0001g0309 a0001c0003t0001g0348 a0001c0003t0001g0362 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0002g0361 a0001c0003t0002g0368 a0001c0003t0004g0252 a0001c0009t0001g0365 a0001c0024t0002g0025 a0001c0024t0002g0302 a0001c0024t0002g0332 a0001c0137t0002g0299 a0001c0138t0001g0311 a0001c0140t0001g0181 a0002c0025t0001g0189 a0002c0025t0001g0298 a0002c0025t0002g0310 a0002c0045t0002g0250 a0002c0045t0002g0272 a0003c0164t0001g0101 a0005c0005t0001g0317 a0005c0142t0001g0255 a0006c0013t0001g0155 a0006c0204t0002g0160 a0006c0205t0001g0187 a0007c0047t0001g0183 a0007c0047t0001g0184 a0009c0165t0003g0206 a0010c0206t0001g0154 a0010c0207t0001g0150 a0013c0074t0001g0335 a0014c0044t0001g0234 a0014c0044t0001g0357 a0014c0139t0001g0359 a0018c0018t0001g0221 a0018c0018t0001g0258 a0018c0018t0003g0227 a0018c0018t0003g0256 a0019c0211t0002g0087 a0033c0046t0001g0197 a0033c0046t0002g0196 a0039c0029t0001g0173 a0039c0029t0001g0174 a0045c0208t0001g0162 a0049c0203t0001g0149 a0053c0185t0001g0067 a0072c0143t0001g0369 a0077c0135t0001g0231 a0078c0115t0001g0203 a0079c0136t0001g0171 a0094c0061t0001g0214	62	403	0.1539	44	c.164 others(61): Show c.1645-771_1645-770insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCAAGGTTTTT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100085	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCTTTCTTTCCTTCCTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01516.hp2 others(17): Show HG00423.hp1 HG00438.hp2 HG01516.hp2 HG02083.hp1 HG02145.hp1 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG06807.hp2 NA18960.hp1 NA18969.hp1 NA18973.hp1 NA18979.hp2 NA19074.hp1 NA20805.hp1	a0002 a0004 a0005 others(10): Show a0002 a0004 a0005 a0008 a0010 a0015 a0017 a0020 a0021 a0039 a0055 a0076 a0083	a0002c0016 a0002c0019 a0002c0102 others(13): Show a0002c0016 a0002c0019 a0002c0102 a0002c0121 a0004c0007 a0005c0005 a0008c0008 a0010c0199 a0015c0057 a0017c0026 a0020c0027 a0021c0028 a0039c0029 a0055c0169 a0076c0106 a0083c0092	a0002c0016t0001 a0002c0019t0001 a0002c0102t0002 others(14): Show a0002c0016t0001 a0002c0019t0001 a0002c0102t0002 a0002c0121t0006 a0004c0007t0001 a0005c0005t0001 a0005c0005t0004 a0008c0008t0001 a0010c0199t0001 a0015c0057t0001 a0017c0026t0001 a0020c0027t0001 a0021c0028t0001 a0039c0029t0001 a0055c0169t0001 a0076c0106t0001 a0083c0092t0001	a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0019t0001g0138 others(17): Show a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0019t0001g0138 a0002c0102t0002g0232 a0002c0121t0006g0075 a0004c0007t0001g0043 a0005c0005t0001g0293 a0005c0005t0004g0281 a0005c0005t0004g0287 a0008c0008t0001g0107 a0010c0199t0001g0094 a0015c0057t0001g0165 a0017c0026t0001g0259 a0017c0026t0001g0375 a0020c0027t0001g0091 a0021c0028t0001g0186 a0039c0029t0001g0173 a0055c0169t0001g0019 a0076c0106t0001g0065 a0083c0092t0001g0331	20	403	0.0496	44	c.244 others(61): Show c.2441-772_2441-771insTTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(37): Show TATATATATATATATAAAATATATATATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0006 a0002c0097t0006	a0002c0097t0006g0050 a0002c0097t0006g0050	1	403	0.0025	44	c.345 others(63): Show c.3454-2564_3454-2563insTATATATATATAAAATATATATATAT AAATATATATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(37): Show TATATATATATATATATATAATATATATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01358.hp1 others(6): Show HG00140.hp2 HG01123.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG03834.hp1 HG03927.hp1 NA18942.hp2	a0001 a0003 a0016 others(1): Show a0001 a0003 a0016 a0055	a0001c0003 a0001c0024 a0001c0103 others(3): Show a0001c0003 a0001c0024 a0001c0103 a0003c0001 a0016c0077 a0055c0169	a0001c0003t0001 a0001c0024t0002 a0001c0103t0001 others(3): Show a0001c0003t0001 a0001c0024t0002 a0001c0103t0001 a0003c0001t0001 a0016c0077t0001 a0055c0169t0001	a0001c0003t0001g0014 a0001c0003t0001g0032 a0001c0003t0001g0213 others(6): Show a0001c0003t0001g0014 a0001c0003t0001g0032 a0001c0003t0001g0213 a0001c0003t0001g0362 a0001c0024t0002g0302 a0001c0103t0001g0346 a0003c0001t0001g0307 a0016c0077t0001g0304 a0055c0169t0001g0019	9	403	0.0223	44	c.345 others(63): Show c.3454-2564_3454-2563insTATATATATATATATAATATATATAT AAATATATATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067285	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01192.hp1 others(5): Show HG00140.hp1 HG00735.hp1 HG01192.hp1 HG01981.hp1 HG03688.hp1 HG03710.hp1 NA18942.hp1 NA18950.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0001 a0002c0001t0001 a0003c0003t0001	a0002c0001t0001g0071 a0002c0001t0001g0179 a0002c0001t0001g0180 others(5): Show a0002c0001t0001g0071 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0184 a0002c0001t0001g0210 a0003c0003t0001g0261 a0003c0003t0001g0265 a0003c0003t0001g0303	8	364	0.0220	44	c.335 others(61): Show c.3356-198_3356-197insGGAAAGAAAGAAAGAAAGAAGGAAAGAA AGAAAGAAAGAAAGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYRFL_chr12_69820227_69964097	69877001	G G	GTCTTTCT others(37): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02895.hp1 HG04199.hp1 HG00738.hp1 HG02895.hp1 HG04199.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0010 a0001c0003 a0007c0010	a0001c0003t0001 a0007c0010t0003 a0001c0003t0001 a0007c0010t0003	a0001c0003t0001g0153 a0001c0003t0001g0252 a0007c0010t0003g0313 a0001c0003t0001g0153 a0001c0003t0001g0252 a0007c0010t0003g0313	3	322	0.0093	44	c.138 others(61): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891635	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0224 a0004c0007t0001g0224	1	322	0.0031	44	c.903 others(59): Show c.903+470_903+471insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19005.hp1 NA19240.hp1 HG00597.hp2 NA19005.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0001 a0003c0006t0001 a0004c0007t0002 a0001c0001t0001 a0003c0006t0001 a0004c0007t0002	a0001c0001t0001g0202 a0003c0006t0001g0091 a0004c0007t0002g0300 a0001c0001t0001g0202 a0003c0006t0001g0091 a0004c0007t0002g0300	3	322	0.0093	44	c.903 others(59): Show c.903+476_903+519dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40192315	T T	TATATGAC others(37): Show TATATGACATATATATATATATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02027.hp1 HG01256.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0138 a0001c0002t0002g0146 a0001c0001t0003g0138 a0001c0002t0002g0146	2	170	0.0118	44	c.166 others(63): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATATATATGTCATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(37): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19012.hp2 NA18984.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0206 a0001c0001t0021g0182 a0001c0001t0001g0206 a0001c0001t0021g0182	2	410	0.0049	44	c.85 others(55): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC ACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698084	C C	CTCTATAT others(37): Show CTCTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0327 a0004c0004t0020g0327	1	410	0.0024	44	c.68+ others(59): Show c.68+1900_68+1901insTATATATATATATATATATATATATATATA TATATATATATAGA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0130 a0002c0002t0014g0130	1	410	0.0024	44	c.68+ others(59): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19007.hp2 NA19010.hp2 HG01928.hp1 NA19007.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098	3	410	0.0073	44	c.68+ others(59): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18977.hp1 HG02148.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0062 a0002c0002t0002g0063	2	410	0.0049	44	c.68+ others(59): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar

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