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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
METTL16_chr17_2411049_2516888 | 2447820 | GCCTGGCC others(41): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 298 | 0.0034 | -48 | c.729 others(65): Show |
METTL16 | ENSG00000127804.13 | transcript | ENST00000263092.11 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
METTL27_chr7_73829590_73847516 | 73836185 | GTCAGCCC others(41): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02145.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107a0002c0002t0001g0126 | 2 | 372 | 0.0054 | -48 | c.479 others(65): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
METTL27_chr7_73829590_73847516 | 73836190 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG00597.hp2 NA19058.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129a0002c0002t0001g0130 | 2 | 372 | 0.0054 | -48 | c.479 others(65): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
METTL27_chr7_73829590_73847516 | 73836228 | GGGGGCAT others(41): Show |
G | intron_variant | MODIFIER | HG01261.hp2 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105a0002c0002t0001g0131 | 2 | 372 | 0.0054 | -48 | c.479 others(65): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
MFN2_chr1_11975444_12018508 | 12008424 | CCCCCCCC others(41): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0004g0047a0001c0001t0006g0037a0001c0001t0006g0038others(9): Show | 12 | 394 | 0.0305 | -48 | c.207 others(67): Show |
MFN2 | ENSG00000116688.18 | transcript | ENST00000235329.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MFSD14B_chr9_94369569_94466042 | 94452638 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | NA18995.hp2 NA19000.hp2 NA19001.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045a0001c0001t0004g0046a0001c0001t0004g0047others(4): Show | 7 | 350 | 0.0200 | -48 | c.915 others(65): Show |
MFSD14B | ENSG00000148110.17 | transcript | ENST00000375344.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MFSD14B_chr9_94369569_94466042 | 94452658 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 350 | 0.0029 | -48 | c.915 others(65): Show |
MFSD14B | ENSG00000148110.17 | transcript | ENST00000375344.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MIA2_chr14_39228915_39355694 | 39249369 | TAGGCTCA others(41): Show |
T | intron_variant | MODIFIER | NA18942.hp2 NA18971.hp2 NA19000.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0011a0002c0001t0002g0021a0002c0001t0002g0022others(1): Show | 4 | 368 | 0.0109 | -48 | c.156 others(67): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MIA2_chr14_39228915_39355694 | 39277672 | TTATATAT others(41): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01081.hp2 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0001a0003c0012others(9): Show | a0001c0002t0001a0002c0001t0002a0003c0012t0002others(9): Show | a0001c0002t0001g0221a0002c0001t0002g0007a0002c0001t0002g0047others(20): Show | 23 | 368 | 0.0625 | -48 | c.201 others(65): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MIA2_chr14_39228915_39355694 | 39277700 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03486.hp1 NA19240.hp2 |
a0015 | a0015c0020 | a0015c0020t0002 | a0015c0020t0002g0001a0015c0020t0002g0003a0015c0020t0002g0005 | 3 | 368 | 0.0082 | -48 | c.201 others(65): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1443999 | AGCCAGCG others(41): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0087a0001c0001t0001g0095a0001c0001t0001g0203others(2): Show | 5 | 280 | 0.0179 | -48 | c.141 others(65): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1444214 | ACCTGTCC others(41): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0033 | 1 | 280 | 0.0036 | -48 | c.141 others(65): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | ||||||
MIDN_chr19_1243583_1264143 | 1246537 | ACACACGA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 418 | 0.0024 | -48 | c.-25 others(59): Show |
MIDN | ENSG00000167470.14 | transcript | ENST00000682408.1 | protein_coding | 2045 | chr19 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438335 | GAGTGTGG others(41): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01978.hp1 HG01981.hp1 others(8): Show |
a0001a0016 | a0001c0002a0016c0030 | a0001c0002t0002a0016c0030t0003 | a0001c0002t0002g0012a0001c0002t0002g0036a0001c0002t0002g0173others(5): Show | 11 | 390 | 0.0282 | -48 | c.-51 others(65): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MINAR1_chr15_79427336_79477304 | 79439341 | TGTGTGTG others(41): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0029 | a0003c0029t0005 | a0003c0029t0005g0178 | 1 | 390 | 0.0026 | -48 | c.-51 others(65): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MKS1_chr17_58200441_58224255 | 58203900 | CCAGCCTG others(41): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 326 | 0.0031 | -48 | c.*21 others(59): Show |
MKS1 | ENSG00000011143.19 | transcript | ENST00000393119.7 | protein_coding | 1540 | chr17 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237517685 | GTGGATGG others(41): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 286 | 0.0070 | -48 | c.446 others(63): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544233 | GGGACAGT others(41): Show |
G | intron_variant | MODIFIER | NA18944.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0037 | a0001c0001t0002a0001c0037t0001 | a0001c0001t0002g0276a0001c0037t0001g0222 | 2 | 286 | 0.0070 | -48 | c.153 others(67): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLXIPL_chr7_73588202_73629522 | 73589025 | ATATAAAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(16): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0001g0052others(15): Show | 19 | 276 | 0.0688 | -48 | c.*47 others(59): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 4176 | chr7 | TogoVar | ||||||
MMGT1_chrX_135955588_135978988 | 135974238 | GGGTGGGG others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 265 | 0.0038 | -48 | c.-61 others(57): Show |
MMGT1 | ENSG00000169446.6 | transcript | ENST00000305963.3 | protein_coding | 251 | chrX | TogoVar | ||||||
MMP25_chr16_3041561_3065726 | 3043521 | GGTTTCGA others(41): Show |
G | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 438 | 0.0023 | -48 | c.-33 others(59): Show |
MMP25 | ENSG00000008516.18 | transcript | ENST00000336577.9 | protein_coding | 3039 | chr16 | TogoVar | ||||||
MOV10L1_chr22_50085006_50166687 | 50147175 | GGCAGGCC others(41): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0290others(24): Show | 27 | 400 | 0.0675 | -48 | c.262 others(67): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147197 | ACTCTGTG others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp1 others(10): Show |
a0001a0004a0005 | a0001c0001a0004c0008a0004c0009others(1): Show | a0001c0001t0001a0004c0008t0001a0004c0009t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0160a0001c0001t0001g0242others(10): Show | 13 | 400 | 0.0325 | -48 | c.262 others(67): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50166553 | CCAATCCC others(41): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0123 | 1 | 400 | 0.0025 | -48 | c.*51 others(59): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 4867 | chr22 | TogoVar | ||||||
MOXD1_chr6_132291055_132406475 | 132349404 | TACATATA others(41): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02630.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0225a0001c0001t0001g0293 | 3 | 318 | 0.0094 | -48 | c.664 others(67): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
MPP7_chr10_28045993_28308064 | 28262181 | TAAATTAT others(41): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0002g0299a0001c0001t0007g0127a0001c0001t0007g0284others(4): Show | 7 | 300 | 0.0233 | -48 | c.-13 others(69): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496523 | GAGATGGT others(41): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0176a0001c0002t0001g0073others(5): Show | 8 | 250 | 0.0320 | -48 | c.633 others(65): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
MRAP2_chr6_84028772_84095881 | 84084884 | TTTTATTT others(41): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0230a0001c0003t0002g0232a0001c0003t0002g0236 | 3 | 272 | 0.0110 | -48 | c.228 others(65): Show |
MRAP2 | ENSG00000135324.6 | transcript | ENST00000257776.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MRPL20_chr1_1396909_1412293 | 1412086 | TAGGTCCC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 354 | 0.0028 | -48 | c.-49 others(59): Show |
MRPL20 | ENSG00000242485.6 | transcript | ENST00000344843.12 | protein_coding | 4794 | chr1 | TogoVar | ||||||
MRPL58_chr17_75007670_75026261 | 75015905 | CTCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG03710.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 2 | 388 | 0.0052 | -48 | c.187 others(65): Show |
MRPL58 | ENSG00000167862.10 | transcript | ENST00000301585.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRS2_chr6_24397936_24431190 | 24429101 | AGCAATGA others(41): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -48 | c.*54 others(59): Show |
MRS2 | ENSG00000124532.15 | transcript | ENST00000378386.8 | protein_coding | 2912 | chr6 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501155 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02896.hp1 NA19083.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0009 | a0001c0001t0001g0226a0001c0001t0002g0032a0001c0002t0009g0006 | 3 | 256 | 0.0117 | -48 | c.242 others(67): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MS4A12_chr11_60487778_60512430 | 60491745 | TCCCCGCC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0118others(1): Show | 8 | 432 | 0.0185 | -48 | c.-10 others(59): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 1032 | chr11 | TogoVar | ||||||
MS4A14_chr11_60391459_60422756 | 60418987 | ATATATAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0122 | 1 | 428 | 0.0023 | -48 | c.*19 others(59): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1232 | chr11 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60201095 | GGCGGCTG others(41): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0046 | a0001c0001t0024g0139a0001c0001t0046g0189 | 2 | 410 | 0.0049 | -48 | c.*40 others(57): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 400 | chr11 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80691972 | TATAGATA others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(11): Show |
a0002a0005a0007others(1): Show | a0002c0003a0005c0006a0007c0008others(1): Show | a0002c0003t0003a0002c0003t0012a0005c0006t0003others(2): Show | a0002c0003t0003g0218a0002c0003t0012g0356a0005c0006t0003g0346others(11): Show | 14 | 362 | 0.0387 | -48 | c.134 others(69): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75902673 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0002c0009others(1): Show | a0001c0002t0001a0001c0002t0004a0002c0003t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0004g0328a0001c0002t0004g0329others(72): Show | 76 | 332 | 0.2289 | -48 | c.261 others(67): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSLN_chr16_755734_773862 | 769164 | GCCCCGGC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01361.hp1 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0022a0002c0003a0004c0006others(4): Show | a0001c0022t0001a0002c0003t0001a0004c0006t0001others(4): Show | a0001c0022t0001g0270a0002c0003t0001g0159a0004c0006t0001g0181others(10): Show | 13 | 388 | 0.0335 | -48 | c.*43 others(57): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 303 | chr16 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682244 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0305 | 1 | 370 | 0.0027 | -48 | c.484 others(65): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697111 | CTGTCTCA others(41): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0148 | 1 | 370 | 0.0027 | -48 | c.104 others(67): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTMR3_chr22_29878174_30035868 | 29906246 | GTCTGTCT others(41): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0033a0001c0006t0034 | a0001c0001t0033g0287a0001c0001t0033g0288a0001c0006t0034g0296 | 3 | 334 | 0.0090 | -48 | c.-13 others(69): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MTOR_chr1_11101535_11267551 | 11250185 | GACCTCCC others(41): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0133 | 1 | 256 | 0.0039 | -48 | c.841 others(65): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 6/57 | chr1 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11250218 | GGGGGGCT others(41): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG01257.hp1 others(19): Show |
a0001a0003 | a0001c0003a0001c0009a0003c0020 | a0001c0003t0003a0001c0003t0009a0001c0009t0003others(2): Show | a0001c0003t0003g0090a0001c0003t0003g0092a0001c0003t0003g0109others(19): Show | 22 | 256 | 0.0859 | -48 | c.841 others(65): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 6/57 | chr1 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124639886 | AACATTAT others(41): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01192.hp2 others(26): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0072a0001c0001t0001g0086others(26): Show | 29 | 286 | 0.1014 | -48 | c.209 others(67): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
MUC15_chr11_26554032_26577263 | 26564720 | CACACACA others(41): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG01952.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004 | a0002c0001t0001g0065a0002c0001t0004g0017a0002c0001t0004g0361 | 4 | 466 | 0.0086 | -48 | c.775 others(63): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767552 | CCATTACC others(41): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0056 | a0056c0142 | a0056c0142t0007 | a0056c0142t0007g0006 | 1 | 249 | 0.0040 | -48 | c.135 others(67): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767556 | TACCATTG others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01361.hp2 others(1): Show |
a0176a0177a0180others(1): Show | a0176c0037a0177c0035a0180c0033others(1): Show | a0176c0037t0002a0177c0035t0002a0180c0033t0002others(1): Show | a0176c0037t0002g0197a0177c0035t0002g0196a0180c0033t0002g0195others(1): Show | 4 | 249 | 0.0161 | -48 | c.135 others(67): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195779011 | GTGTCACC others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00738.hp2 HG01884.hp1 others(5): Show |
a0070a0073a0101others(5): Show | a0070c0174a0073c0176a0101c0123others(5): Show | a0070c0174t0002a0073c0176t0005a0101c0123t0001others(5): Show | a0070c0174t0002g0211a0073c0176t0005g0228a0101c0123t0001g0183others(5): Show | 8 | 249 | 0.0321 | -48 | c.125 others(59): Show |
p.Gly others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12680/16756 | 12521/16239 | 4174/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779335 | GGAAGAGT others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG02723.hp2 | a0036 | a0036c0150 | a0036c0150t0007 | a0036c0150t0007g0189 | 1 | 249 | 0.0040 | -48 | c.121 others(59): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12356/16756 | 12197/16239 | 4066/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779410 | AATGAGGA others(41): Show |
A | disruptive_inframe_deletion | MODERATE | HG03225.hp2 | a0105 | a0105c0124 | a0105c0124t0003 | a0105c0124t0003g0116 | 1 | 249 | 0.0040 | -48 | c.121 others(59): Show |
p.Ala others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12281/16756 | 12122/16239 | 4041/5412 | chr3 | TogoVar |