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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MREG_chr2_215937584_216018551 | 215995511 | C | CCCCCCCG | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0022others(8): Show | a0001c0001t0004g0127a0001c0001t0011g0411a0001c0001t0022g0119others(10): Show | 13 | 416 | 0.0313 | 7 | c.255 others(22): Show |
MREG | ENSG00000118242.17 | transcript | ENST00000263268.11 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
MREG_chr2_215937584_216018551 | 216010354 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG01192.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0029others(5): Show | a0001c0001t0003g0015a0001c0001t0003g0083a0001c0001t0012g0014others(7): Show | 11 | 416 | 0.0264 | 7 | c.95+ others(22): Show |
MREG | ENSG00000118242.17 | transcript | ENST00000263268.11 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
MRFAP1_chr4_6635685_6647729 | 6644205 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01978.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0010g0001 | 19 | 430 | 0.0442 | 7 | c.*24 others(18): Show |
MRFAP1 | ENSG00000179010.16 | transcript | ENST00000382581.5 | protein_coding | 1477 | chr4 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216907 | T | TTTCCTTC | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0000a0004c0004t0000 | a0003c0003t0000g0000a0004c0004t0000g0000 | 4 | 426 | 0.0094 | 7 | c.*10 others(18): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1036 | chr11 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13767038 | T | TATATATA | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0013a0001c0001t0003g0032a0001c0001t0003g0033others(8): Show | 15 | 460 | 0.0326 | 7 | c.547 others(22): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13767861 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01243.hp2 others(15): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0001c0001t0003a0007c0008t0004 | a0001c0001t0002g0174a0001c0001t0002g0299a0001c0001t0003g0034others(13): Show | 18 | 460 | 0.0391 | 7 | c.548 others(22): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787709 | A | ATATATAT | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG03098.hp2 |
a0003a0021 | a0003c0008a0021c0079 | a0003c0008t0001a0021c0079t0001 | a0003c0008t0001g0029a0003c0008t0001g0031a0021c0079t0001g0030 | 3 | 378 | 0.0079 | 7 | c.277 others(24): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787752 | T | TATATATC | intron_variant | MODIFIER | HG01358.hp2 HG03831.hp2 HG03834.hp2 others(2): Show |
a0001a0002a0105others(1): Show | a0001c0094a0002c0003a0002c0040others(2): Show | a0001c0094t0001a0002c0003t0001a0002c0040t0001others(2): Show | a0001c0094t0001g0112a0002c0003t0001g0131a0002c0040t0001g0110others(2): Show | 5 | 378 | 0.0132 | 7 | c.277 others(24): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2B_chr5_40993020_41076342 | 41005425 | C | CCCCTCCT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(36): Show |
a0001a0003a0005others(11): Show | a0001c0002a0001c0037a0001c0067others(18): Show | a0001c0002t0001a0001c0037t0001a0001c0067t0001others(18): Show | a0001c0002t0001g0009a0001c0002t0001g0308a0001c0002t0001g0309others(34): Show | 39 | 396 | 0.0985 | 7 | c.386 others(24): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 35/41 | chr5 | TogoVar | ||||||
MROH7_chr1_54636786_54715266 | 54699127 | T | TTTCTTTC | intron_variant | MODIFIER | HG02132.hp1 NA18955.hp1 NA18972.hp1 others(1): Show |
a0001a0056 | a0001c0001a0056c0040 | a0001c0001t0002a0056c0040t0001 | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0123others(1): Show | 4 | 380 | 0.0105 | 7 | c.296 others(26): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MROH7_chr1_54636786_54715266 | 54699159 | T | TTTCTTTC | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01258.hp1 others(3): Show |
a0002a0004a0005others(3): Show | a0002c0008a0004c0007a0005c0011others(3): Show | a0002c0008t0001a0004c0007t0001a0005c0011t0002others(3): Show | a0002c0008t0001g0068a0004c0007t0001g0042a0005c0011t0002g0170others(3): Show | 6 | 380 | 0.0158 | 7 | c.296 others(26): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MROH7_chr1_54636786_54715266 | 54704793 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp2 HG02040.hp2 HG02083.hp1 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0005a0003c0064a0003c0065others(3): Show | a0001c0005t0001a0001c0005t0002a0003c0064t0002others(4): Show | a0001c0005t0001g0237a0001c0005t0001g0243a0001c0005t0001g0253others(7): Show | 10 | 380 | 0.0263 | 7 | c.356 others(26): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MRO_chr18_50790130_50825016 | 50809142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(12): Show |
a0003 | a0003c0005a0003c0007 | a0003c0005t0002a0003c0005t0003a0003c0005t0004others(5): Show | a0003c0005t0002g0363a0003c0005t0002g0364a0003c0005t0002g0368others(8): Show | 15 | 430 | 0.0349 | 7 | c.99+ others(20): Show |
MRO | ENSG00000134042.14 | transcript | ENST00000398439.8 | protein_coding | 3/7 | chr18 | TogoVar | ||||||
MRO_chr18_50790130_50825016 | 50822303 | T | TGTGCGTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0021others(52): Show | a0001c0001t0001g0081a0001c0001t0007g0039a0001c0001t0007g0041others(85): Show | 99 | 430 | 0.2302 | 7 | c.-25 others(18): Show |
MRO | ENSG00000134042.14 | transcript | ENST00000398439.8 | protein_coding | 2288 | chr18 | TogoVar | ||||||
MRPL18_chr6_159785467_159803429 | 159787078 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0008others(19): Show | 109 | 408 | 0.2672 | 7 | c.-35 others(18): Show |
MRPL18 | ENSG00000112110.10 | transcript | ENST00000367034.5 | protein_coding | 3388 | chr6 | TogoVar | ||||||
MRPL1_chr4_77857830_77957785 | 77863461 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01928.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(14): Show | 17 | 302 | 0.0563 | 7 | c.31+ others(20): Show |
MRPL1 | ENSG00000169288.18 | transcript | ENST00000315567.13 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MRPL1_chr4_77857830_77957785 | 77924231 | A | AGTGGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 215 | 302 | 0.7119 | 7 | c.777 others(26): Show |
MRPL1 | ENSG00000169288.18 | transcript | ENST00000315567.13 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MRPL20_chr1_1396909_1412293 | 1403127 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG01099.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(12): Show | 52 | 354 | 0.1469 | 7 | c.277 others(22): Show |
MRPL20 | ENSG00000242485.6 | transcript | ENST00000344843.12 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
MRPL20_chr1_1396909_1412293 | 1411847 | T | TCCAGGTC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0025 | 24 | 354 | 0.0678 | 7 | c.-46 others(18): Show |
MRPL20 | ENSG00000242485.6 | transcript | ENST00000344843.12 | protein_coding | 4555 | chr1 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888058 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0087a0001c0001t0001g0096 | 8 | 395 | 0.0203 | 7 | c.*32 others(18): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 3219 | chr11 | TogoVar | ||||||
MRPL22_chr5_154936073_154974411 | 154936416 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01952.hp1 HG01978.hp2 HG02055.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0162a0001c0001t0001g0163others(12): Show | 22 | 358 | 0.0615 | 7 | c.-46 others(18): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 4656 | chr5 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735565 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00735.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(9): Show | 32 | 364 | 0.0879 | 7 | c.*18 others(18): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1737 | chr1 | TogoVar | ||||||
MRPL33_chr2_27766719_27784733 | 27770641 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 33 | 394 | 0.0838 | 7 | c.-11 others(18): Show |
MRPL33 | ENSG00000243147.8 | transcript | ENST00000296102.8 | protein_coding | 1077 | chr2 | TogoVar | ||||||
MRPL35_chr2_86194457_86218790 | 86198040 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0029 | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0017others(3): Show | 17 | 424 | 0.0401 | 7 | c.-14 others(18): Show |
MRPL35 | ENSG00000132313.15 | transcript | ENST00000337109.9 | protein_coding | 1416 | chr2 | TogoVar | ||||||
MRPL39_chr21_25580656_25612481 | 25600395 | T | TAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0067others(5): Show | 12 | 400 | 0.0300 | 7 | c.521 others(22): Show |
MRPL39 | ENSG00000154719.14 | transcript | ENST00000352957.9 | protein_coding | 4/9 | chr21 | TogoVar | ||||||
MRPL3_chr3_131457212_131507971 | 131502946 | A | AACGGCCG | 5_prime_UTR_variant | MODIFIER | HG01981.hp2 HG02615.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067a0001c0001t0004g0068a0001c0001t0004g0069 | 3 | 390 | 0.0077 | 7 | c.-12 others(16): Show |
MRPL3 | ENSG00000114686.9 | transcript | ENST00000264995.8 | protein_coding | 1/10 | 126 | chr3 | TogoVar | |||||
MRPL42_chr12_93462514_93521214 | 93506260 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0059a0001c0001t0062others(15): Show | a0001c0001t0035g0019a0001c0001t0035g0099a0001c0001t0059g0020others(16): Show | 19 | 388 | 0.0490 | 7 | c.*50 others(18): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 6/6 | 5062 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
MRPL4_chr19_10247214_10265055 | 10259098 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01257.hp1 NA18939.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0068a0001c0003t0003g0016a0001c0003t0003g0074others(1): Show | 8 | 416 | 0.0192 | 7 | c.739 others(22): Show |
MRPL4 | ENSG00000105364.14 | transcript | ENST00000253099.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MRPL52_chr14_22824887_22840037 | 22825421 | A | ATATATAT | upstream_gene_variant | MODIFIER | NA18949.hp2 NA18962.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0011 | 4 | 458 | 0.0087 | 7 | c.-44 others(18): Show |
MRPL52 | ENSG00000172590.18 | transcript | ENST00000397496.7 | protein_coding | 4465 | chr14 | TogoVar | ||||||
MRPL52_chr14_22824887_22840037 | 22825423 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02080.hp1 NA18995.hp2 NA19012.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0002g0003a0001c0001t0002g0006others(1): Show | 5 | 458 | 0.0109 | 7 | c.-44 others(18): Show |
MRPL52 | ENSG00000172590.18 | transcript | ENST00000397496.7 | protein_coding | 4463 | chr14 | TogoVar | ||||||
MRPL52_chr14_22824887_22840037 | 22831106 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01167.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0005a0003c0003t0004others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0014a0001c0001t0002g0017others(9): Show | 32 | 458 | 0.0699 | 7 | c.154 others(22): Show |
MRPL52 | ENSG00000172590.18 | transcript | ENST00000397496.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MRPL53_chr2_74466982_74477680 | 74471814 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(50): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0006t0001g0008a0001c0008t0001g0011 | 53 | 384 | 0.1380 | 7 | c.*30 others(16): Show |
MRPL53 | ENSG00000204822.7 | transcript | ENST00000258105.8 | protein_coding | 167 | chr2 | TogoVar | ||||||
MRPL55_chr1_228101685_228114299 | 228103090 | T | TCCCGGAG | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01884.hp2 others(3): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0001a0003c0005t0001 | a0003c0004t0001g0008a0003c0005t0001g0009 | 6 | 404 | 0.0149 | 7 | c.*36 others(18): Show |
MRPL55 | ENSG00000162910.19 | transcript | ENST00000336520.8 | protein_coding | 3594 | chr1 | TogoVar | ||||||
MRPL58_chr17_75007670_75026261 | 75023150 | C | CCGGACTG | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 388 | 0.0077 | 7 | c.*21 others(18): Show |
MRPL58 | ENSG00000167862.10 | transcript | ENST00000301585.10 | protein_coding | 1890 | chr17 | TogoVar | ||||||
MRPS17_chr7_55946877_55961500 | 55951319 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(69): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(16): Show | 72 | 424 | 0.1698 | 7 | c.-62 others(16): Show |
MRPS17 | ENSG00000239789.6 | transcript | ENST00000285298.9 | protein_coding | 557 | chr7 | TogoVar | ||||||
MRPS21_chr1_150288861_150313979 | 150294896 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0028a0001c0001t0003g0011a0001c0001t0003g0014others(26): Show | 54 | 386 | 0.1399 | 7 | c.83+ others(20): Show |
MRPS21 | ENSG00000266472.6 | transcript | ENST00000614145.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MRPS23_chr17_57829781_57855044 | 57838289 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01175.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0024others(7): Show | a0001c0001t0005g0006a0001c0001t0005g0046a0001c0001t0005g0203others(20): Show | 33 | 396 | 0.0833 | 7 | c.*14 others(18): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 5/5 | 1493 | chr17 | TogoVar | |||||
MRPS25_chr3_15043512_15070315 | 15067140 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0143a0001c0001t0005g0144others(3): Show | 9 | 368 | 0.0245 | 7 | c.-19 others(18): Show |
MRPS25 | ENSG00000131368.9 | transcript | ENST00000253686.7 | protein_coding | 1826 | chr3 | TogoVar | ||||||
MRPS27_chr5_72214403_72325240 | 72292169 | C | CTTGGTTT | intron_variant | MODIFIER | HG01074.hp1 HG02965.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159a0002c0002t0002g0160a0002c0002t0002g0161 | 3 | 346 | 0.0087 | 7 | c.281 others(24): Show |
MRPS27 | ENSG00000113048.19 | transcript | ENST00000261413.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
MRPS28_chr8_79913717_80035259 | 79919937 | T | TCCCTCCC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp1 others(170): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 173 | 300 | 0.5767 | 7 | c.396 others(22): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
MRPS28_chr8_79913717_80035259 | 79919941 | T | TCCCCCCA | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0233a0001c0001t0001g0249others(3): Show | 6 | 300 | 0.0200 | 7 | c.396 others(22): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
MRPS28_chr8_79913717_80035259 | 79919945 | C | CCCTCCCT | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0122a0001c0001t0001g0133others(5): Show | 8 | 300 | 0.0267 | 7 | c.396 others(22): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
MRPS33_chr7_140997610_141019952 | 141011989 | A | AAAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(85): Show | 313 | 340 | 0.9206 | 7 | c.-27 others(24): Show |
MRPS33 | ENSG00000090263.16 | transcript | ENST00000324787.10 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
MRPS36_chr5_69212760_69235158 | 69223074 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(60): Show | 112 | 409 | 0.2738 | 7 | c.43- others(22): Show |
MRPS36 | ENSG00000134056.12 | transcript | ENST00000256441.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MRPS9_chr2_105033069_105104960 | 105077244 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0159a0001c0003t0001g0160a0001c0003t0001g0161others(3): Show | 6 | 394 | 0.0152 | 7 | c.410 others(24): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40417569 | C | CGGGGGGT | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG02109.hp2 others(21): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0009others(6): Show | a0001c0002t0001g0007a0001c0002t0001g0254a0001c0002t0001g0255others(21): Show | 24 | 256 | 0.0938 | 7 | c.236 others(22): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 12/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40501620 | G | GACGGGGC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0002g0001others(48): Show | 51 | 256 | 0.1992 | 7 | c.242 others(26): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40574440 | A | ATTATTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016a0001c0001t0002g0001a0001c0001t0002g0017others(33): Show | 36 | 256 | 0.1406 | 7 | c.-22 others(26): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 2/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40574440 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 NA18612.hp1 others(9): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0019t0002 | a0001c0001t0001g0037a0001c0001t0002g0019a0001c0001t0002g0022others(9): Show | 12 | 256 | 0.0469 | 7 | c.-22 others(26): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 2/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFB_chr16_14066319_14271773 | 14159929 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0083a0001c0003t0003g0084a0001c0003t0003g0085others(4): Show | 7 | 240 | 0.0292 | 7 | c.154 others(26): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |