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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MLPH_chr2_237482251_237560322 | 237544559 | G | GAGGACAG others(42): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02258.hp1 |
a0015 | a0015c0023 | a0015c0023t0003a0015c0023t0016 | a0015c0023t0003g0256 a0015c0023t0016g0107 |
2 | 271 | 0.0074 | 49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544857 | G | GGGGACAG others(42): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0012 | 1 | 249 | 0.0040 | 49 | c.154 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOBP_chr3_39462680_39508027 | 39503367 | A | ATTCATTC others(42): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 398 | 0.0025 | 49 | c.*48 others(58): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 341 | chr3 | TogoVar | |||||||
MOGAT3_chr7_101190007_101206036 | 101198905 | A | ACAGAGTT others(42): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 436 | 0.0023 | 49 | c.289 others(63): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
MON2_chr12_62461826_62605476 | 62534551 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0057 | 1 | 352 | 0.0028 | 49 | c.163 others(66): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MORC1_chr3_108953248_109123134 | 109040403 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0293 | 1 | 62 | 0.0161 | 49 | c.133 others(68): Show |
MORC1 | ENSG00000114487.10 | transcript | ENST00000232603.10 | protein_coding | 14/27 | chr3 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2331983 | C | CCTGCGCC others(42): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0002 a0001c0001t0002g0015 a0001c0001t0002g0022 others(1): Show |
4 | 54 | 0.0741 | 49 | c.125 others(68): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
MPDZ_chr9_13100707_13284692 | 13136325 | C | CTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 114 | 0.0088 | 49 | c.429 others(66): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 30/46 | chr9 | TogoVar | |||||||
MPEG1_chr11_59203510_59217927 | 59217909 | G | GAAGGAGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02074.hp2 HG02258.hp2 others(12): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0008c0009others(1): Show | a0001c0001t0011a0004c0004t0006a0004c0004t0045others(3): Show | a0001c0001t0011g0000 a0004c0004t0006g0000 a0004c0004t0045g0000 others(3): Show |
15 | 415 | 0.0361 | 49 | c.-50 others(60): Show |
MPEG1 | ENSG00000197629.6 | transcript | ENST00000361050.4 | protein_coding | 4983 | chr11 | TogoVar | |||||||
MPEG1_chr11_59203510_59217927 | 59217919 | A | AGGAAGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01981.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0029 | a0001c0001t0001g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 |
8 | 193 | 0.0415 | 49 | c.-50 others(60): Show |
MPEG1 | ENSG00000197629.6 | transcript | ENST00000361050.4 | protein_coding | 4993 | chr11 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432589 | G | GGGAGGAG others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
2 | 238 | 0.0084 | 49 | c.225 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432874 | A | AGAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 239 | 0.0042 | 49 | c.225 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(42): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 85 | 0.0118 | 49 | c.748 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501705 | A | AGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 a0001c0001t0003g0063 |
2 | 199 | 0.0101 | 49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501709 | C | CAGCTGGC others(42): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 253 | 0.0040 | 49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537221 | C | CCCGTCCG others(42): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 254 | 0.0039 | 49 | c.241 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537259 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01934.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0075 a0001c0003t0001g0076 |
2 | 253 | 0.0079 | 49 | c.241 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451759 | G | GTCCGGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 442 | 0.0023 | 49 | c.-44 others(60): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4087 | chr11 | TogoVar | |||||||
MS4A5_chr11_60424572_60452792 | 60451759 | G | GTCCGGGA others(42): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 458 | 0.0022 | 49 | c.*40 others(60): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3968 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80691924 | T | TATAGATA others(42): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0328 a0001c0001t0006g0344 |
2 | 360 | 0.0056 | 49 | c.134 others(70): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80691948 | T | TATAGATA others(42): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18906.hp2 NA18946.hp2 others(4): Show |
a0001a0029 | a0001c0001a0029c0041 | a0001c0001t0006a0001c0001t0022a0029c0041t0005 | a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0338 others(4): Show |
7 | 247 | 0.0283 | 49 | c.134 others(70): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80691993 | T | TTAGATAG others(42): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0282 | 1 | 231 | 0.0043 | 49 | c.134 others(70): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80691993 | T | TTATATAG others(42): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18957.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0014 | a0003c0003t0003g0004 a0003c0003t0014g0005 |
2 | 232 | 0.0086 | 49 | c.134 others(70): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692299 | G | GTTTAGAT others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01099.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 others(3): Show |
6 | 244 | 0.0246 | 49 | c.134 others(70): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSL2_chr3_136143917_136201335 | 136169231 | C | CGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 124 | 0.0081 | 49 | c.143 others(68): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767753 | C | CGCGTGGG others(42): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0042 | 1 | 364 | 0.0027 | 49 | c.159 others(66): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767986 | A | AGGGGGGC others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 a0002c0002t0002g0321 |
2 | 373 | 0.0054 | 49 | c.159 others(66): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767988 | G | GGGGGCAC others(42): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01074.hp2 others(41): Show |
a0002a0017 | a0002c0002a0002c0003a0002c0024others(1): Show | a0002c0002t0002a0002c0003t0002a0002c0024t0002others(1): Show | a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0025 others(30): Show |
44 | 267 | 0.1648 | 49 | c.159 others(66): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10337818 | T | TCTCCAGT others(42): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0220 | 1 | 284 | 0.0035 | 49 | c.543 others(68): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
MSRB3_chr12_65273683_65471907 | 65469655 | T | TTGGATCG others(42): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0138 | 1 | 310 | 0.0032 | 49 | c.*63 others(60): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 2749 | chr12 | TogoVar | |||||||
MSS51_chr10_73418579_73438561 | 73429733 | T | TTCATGTA others(42): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 314 | 0.0032 | 49 | c.-17 others(66): Show |
MSS51 | ENSG00000166343.10 | transcript | ENST00000299432.7 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250696 | G | GGGGAGGG others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03130.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 174 | 0.0172 | 49 | c.677 others(64): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250696 | G | GGGGGGGA others(42): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 2 | 173 | 0.0116 | 49 | c.677 others(64): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655951 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0285 |
2 | 216 | 0.0093 | 49 | c.-81 others(68): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655968 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 265 | 0.0038 | 49 | c.-81 others(68): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(42): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 170 | 0.0059 | 49 | c.-81 others(68): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTHFD2_chr2_74193615_74222565 | 74203911 | T | TTTAGTTT others(42): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 399 | 0.0025 | 49 | c.102 others(66): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17767700 | T | TAAGAAAA others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0017 | a0017c0047 | a0017c0047t0015 | a0017c0047t0015g0181 | 1 | 204 | 0.0049 | 49 | c.-15 others(70): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195779292 | A | AGCGGTGG others(42): Show |
frameshift_variant | HIGH | HG03579.hp1 | a0093 | a0093c0031 | a0093c0031t0005 | a0093c0031t0005g0230 | 1 | 247 | 0.0040 | 49 | c.122 others(60): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12399/16756 | 12287/16239 | 4096/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779931 | T | TGTGGATG others(42): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0111 | a0111c0066 | a0111c0066t0001 | a0111c0066t0001g0061 | 1 | 159 | 0.0063 | 49 | c.116 others(60): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11760/16756 | 11648/16239 | 3883/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782906 | C | CTGTAGAT others(42): Show |
frameshift_variant | HIGH | NA18988.hp1 | a0113 | a0113c0080 | a0113c0080t0001 | a0113c0080t0001g0103 | 1 | 248 | 0.0040 | 49 | c.867 others(58): Show |
p.Gly others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8785/16756 | 8673/16239 | 2891/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783262 | T | TCGGTGAC others(42): Show |
frameshift_variant | HIGH | HG03225.hp1 | a0089 | a0089c0110 | a0089c0110t0001 | a0089c0110t0001g0018 | 1 | 234 | 0.0043 | 49 | c.831 others(58): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8429/16756 | 8317/16239 | 2773/5412 | chr3 | TogoVar | |||
MXRA5_chrX_3303565_3351652 | 3341185 | A | ATATATAA others(42): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 282 | 0.0035 | 49 | c.188 others(66): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351046 | A | AGGAGCGA others(42): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 335 | 0.0030 | 49 | c.*25 others(60): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1644 | chr1 | TogoVar | |||||||
MYBPC2_chr19_50427892_50471321 | 50459458 | G | GGGGGGTG others(42): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0265 | 1 | 394 | 0.0025 | 49 | c.279 others(66): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109075381 | C | CTTGTGAT others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG02572.hp2 others(8): Show |
a0001a0006a0007others(1): Show | a0001c0002a0001c0016a0001c0017others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0016t0001others(6): Show | a0001c0002t0001g0001 a0001c0002t0001g0035 a0001c0002t0001g0045 others(8): Show |
11 | 75 | 0.1467 | 49 | c.333 others(70): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109075381 | C | CTTGTGAT others(42): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 NA19011.hp2 others(1): Show |
a0002a0015a0018 | a0002c0001a0002c0051a0015c0057others(1): Show | a0002c0001t0001a0002c0051t0001a0015c0057t0001others(1): Show | a0002c0001t0001g0139 a0002c0051t0001g0094 a0015c0057t0001g0024 others(1): Show |
4 | 68 | 0.0588 | 49 | c.333 others(70): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282905 | G | GGGGGGAG others(42): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0024 | a0001c0005t0024g0117 | 1 | 192 | 0.0052 | 49 | c.4-1 others(64): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282911 | A | AGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 140 | 0.0071 | 49 | c.4-1 others(64): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(42): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 a0001c0002t0003g0119 |
2 | 162 | 0.0123 | 49 | c.4-1 others(64): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar |