| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MECOM_chr3_169078507_169668712 | 169191700 | AAAAGAAA others(35): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0008 | a0001c0001t0013g0044a0001c0004t0008g0109 | 2 | 160 | 0.0125 | -42 | c.376 others(61): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
| MEGF9_chr9_120595811_120719470 | 120650491 | GGACATCC others(35): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 290 | 0.0035 | -42 | c.803 others(59): Show |
MEGF9 | ENSG00000106780.9 | transcript | ENST00000373930.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
| MERTK_chr2_111893607_112034561 | 111963757 | CTTCTTTC others(35): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG04115.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055a0003c0003t0001g0056 | 2 | 288 | 0.0069 | -42 | c.758 others(59): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| METRNL_chr17_83074609_83100122 | 83090464 | CCCCGCCC others(35): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00738.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0132a0001c0002t0001g0133a0001c0002t0001g0228others(4): Show | 7 | 399 | 0.0175 | -42 | c.557 others(59): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| METTL26_chr16_629430_641305 | 631768 | TCCCACCC others(35): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 404 | 0.0025 | -42 | c.*27 others(53): Show |
METTL26 | ENSG00000130731.16 | transcript | ENST00000301686.13 | protein_coding | 2661 | chr16 | TogoVar | ||||||
| MFN1_chr3_179342709_179399936 | 179374339 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0027 | a0001c0005t0027g0288 | 1 | 402 | 0.0025 | -42 | c.976 others(57): Show |
MFN1 | ENSG00000171109.19 | transcript | ENST00000471841.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MFSD12_chr19_3539199_3562586 | 3545037 | GTCCTGTC others(35): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0194 | 1 | 426 | 0.0024 | -42 | c.129 others(58): Show |
MFSD12 | ENSG00000161091.15 | transcript | ENST00000355415.7 | protein_coding | 8/9 | chr19 | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144505490 | GTGCGTTC others(35): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0007t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0007t0001g0001a0002c0003t0001g0002 | 6 | 400 | 0.0150 | -42 | c.-38 others(53): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 3579 | chr8 | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144505532 | TTGCGTTC others(35): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 HG04228.hp2 NA18960.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001a0005c0005t0001g0001 | 6 | 400 | 0.0150 | -42 | c.-38 others(53): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 3537 | chr8 | TogoVar | ||||||
| MGAM_chr7_141990879_142111747 | 142042548 | TATATACA others(35): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0079 | a0002c0079t0001 | a0002c0079t0001g0068 | 1 | 316 | 0.0032 | -42 | c.249 others(61): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MGAM_chr7_141990879_142111747 | 142044161 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 316 | 0.0032 | -42 | c.249 others(61): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MGAT5B_chr17_76863404_76955393 | 76924293 | CCAGCAGC others(35): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0013 | 1 | 278 | 0.0036 | -42 | c.102 others(59): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MGMT_chr10_129462241_129775983 | 129511093 | CCACGTGC others(35): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0056a0001c0001t0004g0067a0001c0001t0004g0068others(15): Show | 18 | 194 | 0.0928 | -42 | c.-12 others(61): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MIA2_chr14_39228915_39355694 | 39277678 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01070.hp1 others(18): Show |
a0002a0006a0010others(6): Show | a0002c0001a0006c0005a0010c0011others(7): Show | a0002c0001t0002a0006c0005t0002a0010c0011t0002others(7): Show | a0002c0001t0002g0010a0002c0001t0002g0011a0002c0001t0002g0037others(18): Show | 21 | 368 | 0.0571 | -42 | c.201 others(59): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MIB1_chr18_21735792_21875953 | 21738806 | CAAAAAAA others(35): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01943.hp2 HG01975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0130others(2): Show | 5 | 308 | 0.0162 | -42 | c.-27 others(53): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 1985 | chr18 | TogoVar | ||||||
| MIER1_chr1_66919990_66993619 | 66944371 | CTAGGTCC others(35): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 248 | 0.0040 | -42 | c.194 others(59): Show |
MIER1 | ENSG00000198160.15 | transcript | ENST00000401041.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MIER2_chr19_300573_349796 | 310520 | TGAGCTAT others(35): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 384 | 0.0026 | -42 | c.984 others(59): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
| MILR1_chr17_64444115_64473643 | 64458105 | TCTTTCTT others(35): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 394 | 0.0025 | -42 | c.652 others(57): Show |
MILR1 | ENSG00000271605.6 | transcript | ENST00000619286.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MINK1_chr17_4828340_4903061 | 4874192 | GTGAGCTC others(35): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0082 | 1 | 360 | 0.0028 | -42 | c.58- others(57): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MKX_chr10_27667874_27750819 | 27742425 | GACGAAAC others(35): Show |
G | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0100 | 1 | 354 | 0.0028 | -42 | c.188 others(57): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 2/6 | chr10 | TogoVar | ||||||
| MLF1_chr3_158566194_158611456 | 158573078 | GAATATTT others(35): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0260a0001c0003t0007g0261 | 2 | 380 | 0.0053 | -42 | c.47+ others(57): Show |
MLF1 | ENSG00000178053.21 | transcript | ENST00000466246.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MLLT3_chr9_20336669_20627499 | 20565938 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 | 1 | 186 | 0.0054 | -42 | c.193 others(61): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| MLYCD_chr16_83894115_83932031 | 83917052 | GTGTGGAT others(35): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00597.hp1 others(102): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0011a0001c0001t0013a0001c0001t0014others(64): Show | a0001c0001t0011g0170a0001c0001t0013g0009a0001c0001t0013g0212others(87): Show | 105 | 432 | 0.2431 | -42 | c.*16 others(53): Show |
MLYCD | ENSG00000103150.7 | transcript | ENST00000262430.6 | protein_coding | 5/5 | 1603 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
| MMS22L_chr6_97137161_97288216 | 97210640 | TATATAGA others(35): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0164 | 1 | 292 | 0.0034 | -42 | c.203 others(63): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 14/24 | chr6 | TogoVar | ||||||
| MPP4_chr2_201639874_201703644 | 201685235 | ATCAATGC others(35): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02451.hp2 others(18): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0002a0003c0003t0001a0003c0003t0002others(3): Show | a0001c0001t0002g0092a0001c0001t0002g0298a0003c0003t0001g0296others(16): Show | 21 | 416 | 0.0505 | -42 | c.493 others(56): Show |
MPP4 | ENSG00000082126.18 | transcript | ENST00000409474.8 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
| MPP7_chr10_28045993_28308064 | 28262185 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0126 | 1 | 300 | 0.0033 | -42 | c.-13 others(63): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43495480 | TGGTGGTG others(35): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0159 | 1 | 250 | 0.0040 | -42 | c.633 others(59): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43496421 | GTGGTGGT others(35): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02055.hp1 HG02083.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0003g0223others(6): Show | 9 | 250 | 0.0360 | -42 | c.633 others(59): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43500086 | TGGCGATG others(35): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0025 | a0001c0002t0008g0086a0001c0002t0025g0085 | 2 | 250 | 0.0080 | -42 | c.748 others(59): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MROH2A_chr2_233773330_233838418 | 233787793 | TAATATAT others(35): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01943.hp2 HG02293.hp1 |
a0004a0005 | a0004c0007a0005c0012 | a0004c0007t0001a0005c0012t0001 | a0004c0007t0001g0163a0005c0012t0001g0162a0005c0012t0001g0175 | 3 | 378 | 0.0079 | -42 | c.277 others(59): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | ||||||
| MROH7_chr1_54636786_54715266 | 54713401 | GTGGATTA others(35): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01515.hp2 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0008others(7): Show | a0001c0001t0002a0001c0003t0002a0002c0008t0001others(7): Show | a0001c0001t0002g0178a0001c0003t0002g0150a0002c0008t0001g0011others(8): Show | 11 | 380 | 0.0290 | -42 | c.*32 others(53): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 3136 | chr1 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 362917 | GGGGGTCT others(35): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01109.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0014a0001c0001t0003g0051a0001c0001t0003g0202others(9): Show | 16 | 394 | 0.0406 | -42 | c.*47 others(53): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 4051 | chr16 | TogoVar | ||||||
| MRPL41_chr9_137546879_137557555 | 137551649 | CAGCCCCG others(35): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -42 | c.-33 others(51): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 229 | chr9 | TogoVar | ||||||
| MRPL52_chr14_22824887_22840037 | 22828202 | ACATTAGT others(35): Show |
A | upstream_gene_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 458 | 0.0022 | -42 | c.-17 others(53): Show |
MRPL52 | ENSG00000172590.18 | transcript | ENST00000397496.7 | protein_coding | 1684 | chr14 | TogoVar | ||||||
| MS4A14_chr11_60391459_60422756 | 60418993 | ATATATAT others(35): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 2 | 428 | 0.0047 | -42 | c.*19 others(53): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1238 | chr11 | TogoVar | ||||||
| MSANTD3_chr9_100422143_100456734 | 100456515 | CTTTTTTA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 328 | 0.0031 | -42 | c.*55 others(53): Show |
MSANTD3 | ENSG00000066697.15 | transcript | ENST00000395067.7 | protein_coding | 4782 | chr9 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75902673 | GTATATAT others(35): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02647.hp2 others(6): Show |
a0003a0009 | a0003c0005a0009c0011 | a0003c0005t0001a0009c0011t0001 | a0003c0005t0001g0169a0003c0005t0001g0170a0003c0005t0001g0171others(6): Show | 9 | 332 | 0.0271 | -42 | c.261 others(61): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MSL2_chr3_136143917_136201335 | 136188721 | GTCTCAAA others(35): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 310 | 0.0032 | -42 | c.142 others(59): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767830 | GGGCGCAT others(35): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0239 | 1 | 388 | 0.0026 | -42 | c.159 others(59): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 769170 | GCCCCGGC others(35): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp1 HG04204.hp1 NA19057.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0185a0004c0006t0001g0224a0004c0006t0001g0251 | 3 | 388 | 0.0077 | -42 | c.*43 others(51): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 309 | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 769193 | AGCCCCAA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0346 | 1 | 388 | 0.0026 | -42 | c.*46 others(51): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 332 | chr16 | TogoVar | ||||||
| MT4_chr16_56560073_56573957 | 56568229 | AAGAAAGA others(35): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02015.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0015others(15): Show | 21 | 428 | 0.0491 | -42 | c.97+ others(55): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MTA1_chr14_105414827_105475729 | 105437237 | GTGTGCCT others(35): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(240): Show | 259 | 304 | 0.8520 | -42 | c.29- others(57): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MTBP_chr8_120440419_120528636 | 120521872 | ATGGGAGA others(35): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02622.hp2 others(5): Show |
a0003a0004 | a0003c0007a0004c0006 | a0003c0007t0001a0004c0006t0001 | a0003c0007t0001g0051a0003c0007t0001g0052a0003c0007t0001g0053others(5): Show | 8 | 352 | 0.0227 | -42 | c.261 others(59): Show |
MTBP | ENSG00000172167.8 | transcript | ENST00000305949.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTBP_chr8_120440419_120528636 | 120522040 | ATGGGAGA others(35): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 352 | 0.0028 | -42 | c.261 others(59): Show |
MTBP | ENSG00000172167.8 | transcript | ENST00000305949.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTBP_chr8_120440419_120528636 | 120522166 | GTGGGAGA others(35): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033a0001c0002t0001g0123 | 2 | 352 | 0.0057 | -42 | c.261 others(59): Show |
MTBP | ENSG00000172167.8 | transcript | ENST00000305949.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTCL1_chr18_8700556_8837778 | 8726495 | GCGCGCGC others(35): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02071.hp1 HG02074.hp1 others(17): Show |
a0001a0003a0005others(7): Show | a0001c0003a0001c0116a0001c0174others(14): Show | a0001c0003t0003a0001c0003t0004a0001c0116t0001others(15): Show | a0001c0003t0003g0196a0001c0003t0004g0311a0001c0116t0001g0060others(17): Show | 20 | 336 | 0.0595 | -42 | c.143 others(61): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | chr18 | TogoVar | ||||||
| MTCL1_chr18_8700556_8837778 | 8729673 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(166): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0003a0001c0061others(108): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(131): Show | a0001c0001t0001g0173a0001c0001t0001g0179a0001c0001t0001g0224others(165): Show | 169 | 336 | 0.5030 | -42 | c.143 others(61): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MTDH_chr8_97639184_97735260 | 97682242 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA18991.hp1 NA19000.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0021 | a0001c0002t0003g0235a0001c0002t0003g0239a0001c0002t0021g0240 | 3 | 370 | 0.0081 | -42 | c.484 others(59): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTDH_chr8_97639184_97735260 | 97682244 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02132.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0202a0001c0002t0003g0203a0001c0002t0003g0207others(2): Show | 5 | 370 | 0.0135 | -42 | c.484 others(59): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |