view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195777345 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18946.hp2 NA18979.hp2 others(1): Show |
a0001a0015a0023 | a0001c0116a0015c0008a0023c0012 | a0001c0116t0010a0015c0008t0001a0023c0012t0001 | a0001c0116t0010g0003 a0015c0008t0001g0058 a0015c0008t0001g0059 others(1): Show |
4 | 249 | 0.0161 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777360 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0117 | a0001c0117t0010 | a0001c0117t0010g0004 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777495 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0047 | a0047c0185 | a0047c0185t0003 | a0047c0185t0003g0205 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777719 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 |
a0057a0083 | a0057c0186a0083c0184 | a0057c0186t0003a0083c0184t0003 | a0057c0186t0003g0215 a0083c0184t0003g0223 |
2 | 249 | 0.0080 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777812 | A | ATACCTTC others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01981.hp1 HG03492.hp2 |
a0020a0065a0108 | a0020c0020a0065c0133a0108c0135 | a0020c0020t0002a0065c0133t0002a0108c0135t0002 | a0020c0020t0002g0044 a0065c0133t0002g0009 a0108c0135t0002g0074 |
3 | 249 | 0.0121 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777898 | A | ACCCATAC others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
a0005a0007a0042others(1): Show | a0005c0018a0005c0019a0007c0003others(2): Show | a0005c0018t0002a0005c0019t0002a0007c0003t0002others(2): Show | a0005c0018t0002g0013 a0005c0019t0002g0011 a0005c0019t0002g0012 others(4): Show |
7 | 249 | 0.0281 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777899 | G | GTCATACC others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0093 | a0093c0179 | a0093c0179t0004 | a0093c0179t0004g0235 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777913 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0073 | a0073c0203 | a0073c0203t0009 | a0073c0203t0009g0237 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777914 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0061 | a0061c0040 | a0061c0040t0001 | a0061c0040t0001g0179 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0052 | 1 | 292 | 0.0034 | 30 | c.74- others(44): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0003 | a0001c0095a0002c0002a0003c0006 | a0001c0095t0001a0002c0002t0001a0003c0006t0001 | a0001c0095t0001g0086 a0002c0002t0001g0132 a0002c0002t0001g0133 others(1): Show |
5 | 292 | 0.0171 | 30 | c.74- others(45): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1159853 | C | CGGGGCTG others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02071.hp1 HG02165.hp1 others(3): Show |
a0001a0004a0007 | a0001c0001a0001c0027a0004c0003others(1): Show | a0001c0001t0001a0001c0027t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0217 a0001c0027t0001g0215 a0004c0003t0001g0214 others(3): Show |
6 | 292 | 0.0206 | 30 | c.74- others(43): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1170750 | C | CATCCACT others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0030 | a0030c0036 | a0030c0036t0002 | a0030c0036t0002g0047 | 1 | 292 | 0.0034 | 30 | c.187 others(49): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1195148 | C | CACCACGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG03471.hp2 | a0053 | a0053c0111 | a0053c0111t0001 | a0053c0111t0001g0042 | 1 | 292 | 0.0034 | 30 | c.153 others(41): Show |
p.Val others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 36/49 | 15456/17448 | 15409/16965 | 5137/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUC5AC_chr11_1152953_1206138 | 1195214 | G | GGTCGGGC others(23): Show |
conservative_inframe_insertion | MODERATE | NA20805.hp2 | a0079 | a0079c0065 | a0079c0065t0001 | a0079c0065t0001g0157 | 1 | 292 | 0.0034 | 30 | c.154 others(41): Show |
p.Val others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 36/49 | 15456/17448 | 15409/16965 | 5137/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUSK_chr9_110663791_110811558 | 110681080 | T | TTATATAA others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0303 |
3 | 326 | 0.0092 | 30 | c.80- others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689720 | T | TAAATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(38): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 others(38): Show |
41 | 326 | 0.1258 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690198 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02965.hp1 HG03540.hp2 |
a0001a0002 | a0001c0010a0002c0029 | a0001c0010t0006a0002c0029t0005 | a0001c0010t0006g0131 a0001c0010t0006g0133 a0002c0029t0005g0130 |
3 | 326 | 0.0092 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690722 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 326 | 0.0031 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0305 | 1 | 326 | 0.0031 | 30 | c.628 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701690 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 326 | 0.0031 | 30 | c.628 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17415377 | G | GAACAAAC others(23): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0010 | a0010c0007 | a0010c0007t0002 | a0010c0007t0002g0056 | 1 | 400 | 0.0025 | 30 | c.-47 others(41): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 4669 | chr19 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01081.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0033 others(7): Show |
19 | 382 | 0.0497 | 30 | c.*43 others(41): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 372 | 0.0027 | 30 | c.274 others(47): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3341536 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02698.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0002t0001g0061 |
3 | 284 | 0.0106 | 30 | c.188 others(47): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350986 | G | GGAGGGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 30 | c.*26 others(41): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1704 | chr1 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591771 | T | TCTTCCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0147 | 1 | 360 | 0.0028 | 30 | c.-33 others(41): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3199 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591771 | T | TCTTCTCC others(23): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 360 | 0.0028 | 30 | c.-33 others(41): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3199 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(23): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 NA18973.hp2 NA19082.hp1 |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0015 | a0001c0001t0007a0002c0002t0004a0009c0015t0003 | a0001c0001t0007g0116 a0002c0002t0004g0157 a0009c0015t0003g0268 |
3 | 360 | 0.0083 | 30 | c.-32 others(41): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(23): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0006 | a0006c0016 | a0006c0016t0002 | a0006c0016t0002g0189 | 1 | 360 | 0.0028 | 30 | c.-32 others(41): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01515.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 others(9): Show |
15 | 374 | 0.0401 | 30 | c.655 others(45): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286785 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0302 | 1 | 334 | 0.0030 | 30 | c.594 others(47): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294107 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 334 | 0.0030 | 30 | c.378 others(47): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294114 | A | ATATATAC others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0008 | a0008c0040 | a0008c0040t0002 | a0008c0040t0002g0198 | 1 | 334 | 0.0030 | 30 | c.378 others(47): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(19): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0159 others(19): Show |
22 | 334 | 0.0659 | 30 | c.378 others(47): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03704.hp2 NA18943.hp1 others(3): Show |
a0001a0014 | a0001c0001a0014c0029 | a0001c0001t0001a0014c0029t0007 | a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0175 others(3): Show |
6 | 334 | 0.0180 | 30 | c.378 others(47): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 376 | 0.0027 | 30 | c.125 others(47): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0159 |
2 | 376 | 0.0053 | 30 | c.125 others(47): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 376 | 0.0027 | 30 | c.125 others(47): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0215 | 1 | 376 | 0.0027 | 30 | c.125 others(47): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152697679 | A | AACACACA others(23): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01109.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0002c0002t0003a0002c0002t0004others(4): Show | a0001c0001t0023g0167 a0002c0002t0003g0054 a0002c0002t0004g0005 others(16): Show |
29 | 444 | 0.0653 | 30 | c.-22 others(39): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 217 | chr6 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4671880 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0252 |
2 | 410 | 0.0049 | 30 | c.-15 others(41): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1539 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672158 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0030 |
2 | 410 | 0.0049 | 30 | c.-18 others(41): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1817 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672349 | T | TTATATTC others(23): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18950.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0214 others(2): Show |
5 | 410 | 0.0122 | 30 | c.-20 others(41): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 2008 | chr19 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8489706 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01975.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0007 | a0001c0002t0002g0145 a0001c0002t0002g0162 a0001c0002t0002g0222 others(2): Show |
5 | 274 | 0.0183 | 30 | c.488 others(47): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 35/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8585286 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02071.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002 | a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0002g0229 others(1): Show |
4 | 274 | 0.0146 | 30 | c.530 others(47): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8592933 | C | CCATATAT others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18987.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0006t0001a0001c0009t0010 | a0001c0001t0001g0093 a0001c0006t0001g0192 a0001c0009t0010g0018 |
3 | 274 | 0.0110 | 30 | c.503 others(47): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01255.hp1 others(10): Show |
a0001a0002 | a0001c0009a0001c0010a0002c0001others(1): Show | a0001c0009t0001a0001c0010t0001a0002c0001t0001others(1): Show | a0001c0009t0001g0172 a0001c0009t0001g0222 a0001c0009t0001g0241 others(10): Show |
13 | 297 | 0.0438 | 30 | c.578 others(49): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 297 | 0.0034 | 30 | c.531 others(47): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50251458 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG06807.hp1 |
a0001a0002 | a0001c0011a0001c0113a0002c0058 | a0001c0011t0001a0001c0113t0001a0002c0058t0001 | a0001c0011t0001g0098 a0001c0113t0001g0194 a0002c0058t0001g0256 |
3 | 298 | 0.0101 | 30 | c.183 others(47): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 15/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |