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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MATN2_chr8_97864064_98041724 | 98037386 | G | GTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0126 | 1 | 318 | 0.0031 | 30 | c.*16 others(41): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 663 | chr8 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 98037392 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02129.hp1 HG02818.hp1 others(5): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0012t0001others(1): Show | a0001c0002t0001g0105 a0001c0002t0001g0163 a0001c0002t0001g0201 others(5): Show |
8 | 318 | 0.0252 | 30 | c.*16 others(41): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 669 | chr8 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0058 a0001c0001t0001g0282 a0001c0001t0001g0283 others(4): Show |
8 | 432 | 0.0185 | 30 | c.223 others(47): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 NA19080.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0094 a0002c0003t0001g0215 a0002c0003t0001g0216 |
3 | 422 | 0.0071 | 30 | c.-34 others(45): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MAU2_chr19_19315829_19363754 | 19326704 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 344 | 0.0029 | 30 | c.276 others(47): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192916098 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | 298 | 0.0067 | 30 | c.211 others(47): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD2_chr18_54146606_54229669 | 54180897 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0250 | 1 | 300 | 0.0033 | 30 | c.840 others(47): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053262 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG03041.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0022 a0002c0004t0003g0041 |
3 | 258 | 0.0116 | 30 | c.*16 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 1528 | chr19 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053830 | A | ATATATTA others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(113): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0008t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(15): Show |
116 | 258 | 0.4496 | 30 | c.*22 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2096 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053262 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 | 2 | 288 | 0.0069 | 30 | c.*30 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2944 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053830 | A | ATATATTA others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0024 others(12): Show |
126 | 288 | 0.4375 | 30 | c.*24 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2376 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053834 | A | ATTATAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 30 | c.*24 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2372 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7062125 | A | ATATTATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 30 | c.-35 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3450 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035512 | A | ATATAATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0044 | 1 | 262 | 0.0038 | 30 | c.*23 others(41): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2236 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035512 | A | ATATAATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0006 | 1 | 249 | 0.0040 | 30 | c.*26 others(41): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2502 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148239686 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 188 | 0.0053 | 30 | c.-68 others(49): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148296863 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 188 | 0.0053 | 30 | c.-67 others(51): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | chr2 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148296864 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0111 a0001c0003t0001g0075 |
2 | 188 | 0.0106 | 30 | c.-67 others(51): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02165.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0096 others(4): Show |
7 | 254 | 0.0276 | 30 | c.174 others(49): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97368412 | T | TTAAAATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01952.hp2 HG03239.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0217 others(5): Show |
8 | 254 | 0.0315 | 30 | c.104 others(49): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396347 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396829 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0103 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396847 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0023 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168599 | G | GAGAGAAG others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0017 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168630 | A | AGAGAGGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168640 | A | AGAGAAGA others(23): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT4_chr8_30126671_30149665 | 30143347 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024 | 2 | 380 | 0.0053 | 30 | c.119 others(47): Show |
MBOAT4 | ENSG00000177669.4 | transcript | ENST00000320542.4 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54177151 | A | AAATACTA others(23): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0083 a0001c0002t0002g0057 |
2 | 373 | 0.0054 | 30 | c.103 others(49): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975180 | C | CTTTTCTT others(23): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0165 | 1 | 396 | 0.0025 | 30 | c.*52 others(41): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3652 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0261 | 1 | 340 | 0.0029 | 30 | c.*41 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0328 | 1 | 340 | 0.0029 | 30 | c.*41 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02300.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0280 a0001c0001t0054g0304 |
2 | 340 | 0.0059 | 30 | c.*10 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179496 | A | ATATTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG03831.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0198 a0001c0001t0015g0233 a0001c0001t0015g0245 others(1): Show |
4 | 340 | 0.0118 | 30 | c.*10 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1079 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0023 | 1 | 340 | 0.0029 | 30 | c.176 others(49): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051105 | G | GCCCGCAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 30 | c.*33 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2657 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051734 | C | CACATGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0268 a0001c0002t0021g0276 |
2 | 424 | 0.0047 | 30 | c.*27 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2028 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051759 | G | GCCCGCAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0360 | 1 | 424 | 0.0024 | 30 | c.*26 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2003 | chr16 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21862933 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18979.hp2 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0217 a0001c0002t0002g0057 a0001c0002t0002g0075 |
3 | 308 | 0.0097 | 30 | c.671 others(47): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0000 | 1 | 428 | 0.0023 | 30 | c.-25 others(41): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 30 | c.-25 others(41): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113354802 | A | ATTATTAT others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01981.hp1 HG02809.hp2 others(4): Show |
a0001a0003 | a0001c0003a0003c0005a0003c0014others(2): Show | a0001c0003t0019a0003c0005t0001a0003c0005t0019others(3): Show | a0001c0003t0019g0077 a0003c0005t0001g0020 a0003c0005t0001g0021 others(4): Show |
7 | 160 | 0.0438 | 30 | c.416 others(49): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 2/18 | chr5 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0197 | 1 | 418 | 0.0024 | 30 | c.41- others(43): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03927.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 a0003c0003t0001g0201 |
2 | 418 | 0.0048 | 30 | c.41- others(43): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183269230 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0053 | 1 | 176 | 0.0057 | 30 | c.186 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0023 | a0001c0023t0010 | a0001c0023t0010g0008 | 1 | 176 | 0.0057 | 30 | c.130 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183360974 | A | AAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0133 | 1 | 176 | 0.0057 | 30 | c.275 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183361077 | G | GAAGAGAA others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18950.hp1 NA18970.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0055 a0001c0001t0001g0086 a0003c0003t0003g0012 others(1): Show |
4 | 176 | 0.0227 | 30 | c.275 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGA others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 others(17): Show |
20 | 116 | 0.1724 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGG others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0023a0001c0004t0001a0001c0005t0025others(2): Show | a0001c0001t0023g0018 a0001c0004t0001g0103 a0001c0005t0025g0016 others(2): Show |
5 | 116 | 0.0431 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |