regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPKBP1_chr15_41769484_41832855 | 41786776 | AAATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(67): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0003a0003c0005others(6): Show | a0001c0001t0005a0001c0003t0001a0001c0003t0017others(11): Show | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0003t0001g0001others(57): Show | 70 | 328 | 0.2134 | -7 | c.114 others(26): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MAPRE1_chr20_32814954_32855405 | 32828828 | TTTATAGA | T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0289a0001c0001t0001g0290others(2): Show | 6 | 386 | 0.0155 | -7 | c.121 others(24): Show |
MAPRE1 | ENSG00000101367.9 | transcript | ENST00000375571.6 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45903945 | ATATATAT | A | intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 HG02109.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(2): Show | a0001c0001t0001g0165a0001c0001t0001g0247a0001c0001t0003g0122others(3): Show | 6 | 253 | 0.0237 | -7 | c.-18 others(24): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MAPT_chr17_45889554_46033334 | 45904108 | ATATATAT | A | intron_variant | MODIFIER | HG04115.hp1 HG04204.hp1 NA19007.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0211a0001c0001t0002g0072a0002c0002t0003g0145 | 3 | 253 | 0.0119 | -7 | c.-18 others(24): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MAPT_chr17_45889554_46033334 | 45904357 | TATATATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0011a0003c0004t0015others(1): Show | a0003c0004t0004g0001a0003c0004t0004g0003a0003c0004t0004g0004others(18): Show | 21 | 253 | 0.0830 | -7 | c.-18 others(24): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163651525 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02080.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0017others(34): Show | 37 | 102 | 0.3628 | -7 | c.163 others(26): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163992061 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG02280.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0064a0001c0001t0001g0089others(9): Show | 12 | 102 | 0.1177 | -7 | c.-24 others(26): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 2/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164185809 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02027.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0004g0056others(22): Show | 25 | 102 | 0.2451 | -7 | c.-32 others(28): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF2_chr19_8408305_8444017 | 8410564 | GCTATTAT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(70): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0086a0001c0001t0001g0088a0001c0001t0001g0091others(68): Show | 73 | 392 | 0.1862 | -7 | c.-29 others(18): Show |
MARCHF2 | ENSG00000099785.11 | transcript | ENST00000215555.7 | protein_coding | 2740 | chr19 | TogoVar | ||||||
MARCHF4_chr2_216252865_216377483 | 216320668 | TTTCTTTC | T | intron_variant | MODIFIER | HG01993.hp2 HG03579.hp1 HG03834.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0309a0001c0001t0001g0317a0001c0002t0002g0152others(4): Show | 7 | 330 | 0.0212 | -7 | c.517 others(26): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
MARCHF7_chr2_159707506_159776027 | 159734402 | ATTAATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0010others(23): Show | 34 | 364 | 0.0934 | -7 | c.153 others(24): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MARK2_chr11_63834110_63916020 | 63850315 | ATTTTTTT | A | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0088a0001c0003t0005g0129a0001c0003t0005g0146others(2): Show | 5 | 232 | 0.0216 | -7 | c.54+ others(24): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103391709 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(78): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0002g0106a0001c0001t0002g0108a0001c0001t0002g0109others(78): Show | 81 | 348 | 0.2328 | -7 | c.51+ others(22): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103405759 | TTTTTGTA | T | intron_variant | MODIFIER | NA18983.hp2 NA18991.hp2 NA19000.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0001c0001t0009a0006c0013t0001 | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0212others(4): Show | 7 | 348 | 0.0201 | -7 | c.243 others(22): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103409435 | TAAAAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG02055.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0267a0001c0001t0001g0268others(4): Show | 7 | 348 | 0.0201 | -7 | c.243 others(24): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103446710 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(80): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0004c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 83 | 348 | 0.2385 | -7 | c.298 others(24): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103460073 | CTTTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0054others(4): Show | 7 | 348 | 0.0201 | -7 | c.484 others(24): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103476511 | ATATTTAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(87): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0002g0106a0001c0001t0002g0108a0001c0001t0002g0109others(87): Show | 90 | 348 | 0.2586 | -7 | c.148 others(26): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARK4_chr19_45246271_45310284 | 45283409 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01167.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0189a0001c0001t0001g0221a0001c0001t0002g0237others(36): Show | 39 | 260 | 0.1500 | -7 | c.127 others(26): Show |
MARK4 | ENSG00000007047.16 | transcript | ENST00000262891.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493347 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0217others(54): Show | 59 | 288 | 0.2049 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493591 | TTATAATA | T | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02717.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175others(6): Show | 9 | 288 | 0.0313 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493654 | ATATATAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02615.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0196a0001c0001t0001g0199others(13): Show | 16 | 288 | 0.0556 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493704 | AATATATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00741.hp2 others(30): Show |
a0001a0009 | a0001c0001a0001c0010a0009c0008 | a0001c0001t0001a0001c0010t0001a0009c0008t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0029others(30): Show | 33 | 288 | 0.1146 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493745 | ATATACAT | A | intron_variant | MODIFIER | HG00280.hp1 HG02040.hp1 HG03710.hp1 others(8): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0249a0001c0001t0001g0250a0001c0001t0001g0254others(8): Show | 11 | 288 | 0.0382 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493924 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(45): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0002c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0217a0001c0001t0001g0218others(45): Show | 48 | 288 | 0.1667 | -7 | c.770 others(24): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MAST1_chr19_12833515_12879952 | 12858006 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(53): Show | 56 | 316 | 0.1772 | -7 | c.107 others(24): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MAST1_chr19_12833515_12879952 | 12863158 | CAAAAAAA | C | intron_variant | MODIFIER | HG01934.hp2 HG02451.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0286others(4): Show | 7 | 316 | 0.0222 | -7 | c.136 others(26): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MAST2_chr1_45798612_46041122 | 45937751 | CAAAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0002a0004a0010 | a0002c0007a0002c0009a0002c0033others(2): Show | a0002c0007t0001a0002c0009t0001a0002c0033t0001others(2): Show | a0002c0007t0001g0020a0002c0009t0001g0125a0002c0033t0001g0121others(4): Show | 7 | 288 | 0.0243 | -7 | c.501 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAST3_chr19_18092778_18156687 | 18111530 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01074.hp1 others(13): Show |
a0000a0001a0003others(1): Show | a0000c0024a0001c0002a0003c0004others(2): Show | a0000c0024t0001a0001c0002t0002a0003c0004t0001others(6): Show | a0000c0024t0001g0016a0001c0002t0002g0023a0003c0004t0001g0025others(12): Show | 16 | 296 | 0.0541 | -7 | c.161 others(22): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66673509 | TTTTTTTG | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0026a0001c0002t0005a0001c0008t0006others(9): Show | a0001c0001t0026g0105a0001c0002t0005g0055a0001c0008t0006g0084others(9): Show | 12 | 108 | 0.1111 | -7 | c.363 others(26): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66767172 | TGTGTGTG | T | intron_variant | MODIFIER | HG02451.hp2 HG03195.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0029 | a0001c0002t0001g0075a0001c0003t0029g0045 | 2 | 108 | 0.0185 | -7 | c.517 others(24): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66956358 | GAAGTTCA | G | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02922.hp2 others(1): Show |
a0002a0009 | a0002c0005a0002c0023a0009c0032 | a0002c0005t0010a0002c0005t0028a0002c0023t0010others(1): Show | a0002c0005t0010g0083a0002c0005t0028g0074a0002c0023t0010g0100others(1): Show | 4 | 108 | 0.0370 | -7 | c.674 others(26): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67082028 | AGATACTT | A | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 |
a0006 | a0006c0031a0006c0038 | a0006c0031t0027a0006c0038t0031 | a0006c0031t0027g0101a0006c0038t0031g0014 | 2 | 108 | 0.0185 | -7 | c.764 others(24): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67128762 | AAGTAACT | A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02965.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0008a0007c0014t0007 | a0001c0001t0008g0087a0007c0014t0007g0008a0007c0014t0007g0012 | 3 | 108 | 0.0278 | -7 | c.174 others(26): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MASTL_chr10_27150352_27192953 | 27174797 | TCTTAACC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01069.hp1 others(8): Show |
a0002 | a0002c0003a0002c0005a0002c0013 | a0002c0003t0009a0002c0005t0009a0002c0013t0009 | a0002c0003t0009g0035a0002c0003t0009g0296a0002c0003t0009g0299others(7): Show | 11 | 398 | 0.0276 | -7 | c.226 others(26): Show |
MASTL | ENSG00000120539.15 | transcript | ENST00000375940.9 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
MAT2B_chr5_163500619_163524354 | 163509253 | TTTGTGGA | T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0035others(8): Show | 18 | 370 | 0.0487 | -7 | c.64- others(22): Show |
MAT2B | ENSG00000038274.18 | transcript | ENST00000321757.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MATCAP2_chr7_36319152_36372240 | 36341297 | AATATAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0012others(33): Show | 46 | 388 | 0.1186 | -7 | c.715 others(24): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
MATN1_chr1_30706277_30728585 | 30717652 | TTGTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0009a0001c0001t0006g0021a0001c0001t0006g0055others(2): Show | 16 | 440 | 0.0364 | -7 | c.665 others(22): Show |
MATN1 | ENSG00000162510.6 | transcript | ENST00000373765.5 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97941179 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(106): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0004a0001c0008others(26): Show | a0001c0002t0001a0001c0004t0001a0001c0008t0001others(30): Show | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0070others(106): Show | 109 | 318 | 0.3428 | -7 | c.713 others(22): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MATN2_chr8_97864064_98041724 | 97980558 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp2 HG02145.hp2 HG02451.hp1 others(4): Show |
a0001a0010 | a0001c0016a0001c0017a0010c0039 | a0001c0016t0005a0001c0017t0005a0001c0017t0016others(1): Show | a0001c0016t0005g0095a0001c0016t0005g0108a0001c0016t0005g0119others(4): Show | 7 | 318 | 0.0220 | -7 | c.108 others(26): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MATN2_chr8_97864064_98041724 | 98026178 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0021a0001c0025others(10): Show | a0001c0001t0002a0001c0021t0006a0001c0021t0011others(12): Show | a0001c0001t0002g0025a0001c0001t0002g0027a0001c0001t0002g0083others(30): Show | 33 | 318 | 0.1038 | -7 | c.194 others(26): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MATR3_chr5_139288740_139336677 | 139321782 | CAAAAAAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(79): Show | 100 | 282 | 0.3546 | -7 | c.160 others(24): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAVS_chr20_3841834_3881118 | 3878869 | CACACACA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01123.hp1 others(1): Show |
a0001a0005a0014 | a0001c0001a0005c0007a0014c0029 | a0001c0001t0007a0005c0007t0016a0005c0007t0136others(1): Show | a0001c0001t0007g0385a0005c0007t0016g0344a0005c0007t0136g0212others(1): Show | 4 | 420 | 0.0095 | -7 | c.*12 others(20): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 2752 | chr20 | TogoVar | ||||||
MAX_chr14_65070127_65107517 | 65089756 | TAAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01981.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0034 | 7 | 382 | 0.0183 | -7 | c.171 others(24): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | ||||||
MAX_chr14_65070127_65107517 | 65099536 | AAACAAAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01192.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0043others(7): Show | 20 | 382 | 0.0524 | -7 | c.63+ others(22): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0190a0001c0001t0001g0282a0001c0001t0006g0233 | 3 | 298 | 0.0101 | -7 | c.212 others(26): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MBD2_chr18_54146606_54229669 | 54225945 | GATGAAAC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(84): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0065others(83): Show | 87 | 300 | 0.2900 | -7 | c.-13 others(18): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 1277 | chr18 | TogoVar | ||||||
MBD3L1_chr19_8827377_8848319 | 8836489 | CTTCTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0223a0001c0001t0001g0224 | 4 | 428 | 0.0094 | -7 | c.-10 others(26): Show |
MBD3L1 | ENSG00000170948.4 | transcript | ENST00000595891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MBD3L3_chr19_7051207_7063676 | 7054529 | TATATAAC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 NA18944.hp1 NA18980.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 288 | 0.0104 | -7 | c.*17 others(18): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1677 | chr19 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7034648 | ATTATATT | A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0006a0001c0001t0002g0014 | 3 | 262 | 0.0115 | -7 | c.*32 others(18): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 3100 | chr19 | TogoVar |