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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
METTL27_chr7_73829590_73847516 | 73836185 | GTCAGCCC others(42): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(175): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0011a0002c0013others(5): Show | a0002c0002t0001a0002c0011t0001a0002c0013t0001others(5): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0010others(113): Show | 178 | 372 | 0.4785 | -49 | c.479 others(66): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
MFAP5_chr12_8640943_8667826 | 8666310 | GTTTTTTA others(42): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | -49 | c.-37 others(60): Show |
MFAP5 | ENSG00000197614.11 | transcript | ENST00000359478.7 | protein_coding | 3485 | chr12 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142041910 | TATATACG others(42): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG03209.hp1 others(3): Show |
a0007a0016a0032others(1): Show | a0007c0037a0016c0127a0016c0128others(2): Show | a0007c0037t0002a0016c0127t0001a0016c0128t0003others(2): Show | a0007c0037t0002g0002a0007c0037t0002g0003a0016c0127t0001g0119others(3): Show | 6 | 316 | 0.0190 | -49 | c.249 others(68): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142042200 | TATATAAC others(42): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0041 | a0041c0077 | a0041c0077t0001 | a0041c0077t0001g0184 | 1 | 316 | 0.0032 | -49 | c.249 others(68): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129719202 | GGGCTGTC others(42): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138 | 1 | 194 | 0.0052 | -49 | c.274 others(68): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MIA2_chr14_39228915_39355694 | 39277671 | TTTATATA others(42): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0021 | 1 | 368 | 0.0027 | -49 | c.201 others(66): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MIGA1_chr1_77774649_77884540 | 77883943 | GTGTGAGC others(42): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0162 | 1 | 280 | 0.0036 | -49 | c.*88 others(60): Show |
MIGA1 | ENSG00000180488.17 | transcript | ENST00000370791.9 | protein_coding | 4404 | chr1 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79437794 | TGGGGTTG others(42): Show |
T | intron_variant | MODIFIER | HG02148.hp2 HG02273.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 2 | 390 | 0.0051 | -49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MLC1_chr22_50054391_50090426 | 50073026 | GGCAGTCC others(42): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 212 | 0.0047 | -49 | c.714 others(66): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 8/11 | chr22 | TogoVar | ||||||
MLKL_chr16_74666855_74705862 | 74704019 | ACAAGCTG others(42): Show |
A | upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 438 | 0.0023 | -49 | c.-36 others(60): Show |
MLKL | ENSG00000168404.13 | transcript | ENST00000308807.12 | protein_coding | 3158 | chr16 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542821 | GGGGACAG others(42): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02300.hp1 HG03491.hp1 others(6): Show |
a0007a0017 | a0007c0007a0017c0020 | a0007c0007t0002a0017c0020t0002a0017c0020t0009 | a0007c0007t0002g0029a0007c0007t0002g0030a0007c0007t0002g0031others(6): Show | 9 | 286 | 0.0315 | -49 | c.153 others(66): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543233 | GGCACAGT others(42): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 286 | 0.0035 | -49 | c.153 others(66): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543956 | TGGGGGAC others(42): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0149 | 1 | 286 | 0.0035 | -49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543957 | GGGGGACA others(42): Show |
G | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0049 | a0002c0049t0002 | a0002c0049t0002g0060 | 1 | 286 | 0.0035 | -49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544824 | GGGGACAG others(42): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0190 | 1 | 286 | 0.0035 | -49 | c.154 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLXIP_chr12_122073756_122152344 | 122124359 | CCCCGTCC others(42): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 354 | 0.0028 | -49 | c.414 others(66): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MMD2_chr7_4900998_4964187 | 4959719 | GAAGTGGG others(42): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0361 | 1 | 382 | 0.0026 | -49 | c.-75 others(58): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 533 | chr7 | TogoVar | ||||||
MPRIP_chr17_17037457_17197643 | 17096271 | GGTGTGTG others(42): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp1 others(67): Show |
a0002a0013a0014 | a0002c0002a0002c0006a0002c0022others(2): Show | a0002c0002t0007a0002c0002t0008a0002c0002t0012others(36): Show | a0002c0002t0007g0115a0002c0002t0007g0116a0002c0002t0007g0119others(67): Show | 70 | 314 | 0.2229 | -49 | c.267 others(68): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787948 | TTATATAT others(42): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0354 | 1 | 378 | 0.0027 | -49 | c.277 others(66): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233788042 | TATATATT others(42): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG03130.hp2 others(2): Show |
a0004a0072a0073others(2): Show | a0004c0120a0072c0065a0073c0066others(2): Show | a0004c0120t0001a0072c0065t0001a0073c0066t0001others(2): Show | a0004c0120t0001g0362a0072c0065t0001g0364a0073c0066t0001g0365others(2): Show | 5 | 378 | 0.0132 | -49 | c.277 others(66): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40501144 | AGGGGGCT others(42): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0001g0207others(54): Show | 57 | 256 | 0.2227 | -49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40501194 | GGGGGGCT others(42): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0002t0001g0007a0001c0003t0001g0008a0001c0003t0001g0009others(9): Show | 12 | 256 | 0.0469 | -49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40501832 | AGGGCGGC others(42): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0217 | 1 | 256 | 0.0039 | -49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40501972 | GGGCGGGG others(42): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02129.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0009others(5): Show | a0001c0001t0003g0061a0001c0001t0003g0062a0001c0002t0001g0007others(19): Show | 22 | 256 | 0.0859 | -49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MS4A14_chr11_60391459_60422756 | 60419021 | ATATATAT others(42): Show |
A | downstream_gene_variant | MODIFIER | NA18965.hp1 NA19002.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0032a0001c0009t0001g0032a0001c0009t0001g0090 | 3 | 428 | 0.0070 | -49 | c.*20 others(60): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1266 | chr11 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451524 | GCAGCCAC others(42): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0021others(37): Show | 87 | 446 | 0.1951 | -49 | c.-47 others(60): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4322 | chr11 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451710 | ATCCGGGA others(42): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01192.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0075others(4): Show | 14 | 446 | 0.0314 | -49 | c.-45 others(60): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4136 | chr11 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451745 | AGGCCAGC others(42): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 446 | 0.0022 | -49 | c.-44 others(60): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4101 | chr11 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60200886 | ACCTCCCG others(42): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0083 | 1 | 410 | 0.0024 | -49 | c.*60 others(58): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 608 | chr11 | TogoVar | |||||
MS4A4E_chr11_60195270_60248137 | 60201048 | TGGCTGGC others(42): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0094 | 1 | 410 | 0.0024 | -49 | c.*44 others(58): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 446 | chr11 | TogoVar | |||||
MS4A5_chr11_60424572_60452792 | 60451524 | GCAGCCAC others(42): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp2 others(89): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0036others(51): Show | 92 | 462 | 0.1991 | -49 | c.*37 others(60): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3733 | chr11 | TogoVar | ||||||
MS4A5_chr11_60424572_60452792 | 60451710 | ATCCGGGA others(42): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0142a0001c0001t0001g0143others(3): Show | 14 | 462 | 0.0303 | -49 | c.*39 others(60): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3919 | chr11 | TogoVar | ||||||
MS4A5_chr11_60424572_60452792 | 60451745 | AGGCCAGC others(42): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 462 | 0.0022 | -49 | c.*39 others(60): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3954 | chr11 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767694 | AGGGGGGA others(42): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0043 | 1 | 388 | 0.0026 | -49 | c.159 others(66): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10203948 | GAAAATTT others(42): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 286 | 0.0035 | -49 | c.143 others(66): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42605220 | CCCCCCAC others(42): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 312 | 0.0032 | -49 | c.191 others(66): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42606032 | CCTCCCTC others(42): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 312 | 0.0032 | -49 | c.191 others(66): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42608972 | TCTTCTTT others(42): Show |
T | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 312 | 0.0032 | -49 | c.191 others(64): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | chr2 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74203857 | TTTAGTTT others(42): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(39): Show | 77 | 414 | 0.1860 | -49 | c.102 others(66): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTOR_chr1_11101535_11267551 | 11250014 | ACCTCCCG others(42): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG06807.hp2 |
a0001a0004 | a0001c0012a0004c0027 | a0001c0012t0004a0004c0027t0004 | a0001c0012t0004g0001a0001c0012t0004g0002a0004c0027t0004g0003 | 3 | 256 | 0.0117 | -49 | c.841 others(66): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 6/57 | chr1 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11250248 | CGGGGCGG others(42): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0236a0001c0004t0001g0237a0001c0004t0001g0238others(4): Show | 7 | 256 | 0.0273 | -49 | c.841 others(66): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 6/57 | chr1 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59349021 | GCCATGGA others(42): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 226 | 0.0044 | -49 | c.3+2 others(64): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72100839 | CCCGGCCA others(42): Show |
C | intron_variant | MODIFIER | NA19060.hp1 NA20129.hp1 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0051 | a0001c0001t0001g0179a0008c0009t0051g0263 | 2 | 308 | 0.0065 | -49 | c.-72 others(68): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72101432 | TGCCAGGC others(42): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01891.hp1 HG02071.hp2 others(41): Show |
a0002a0003a0008others(1): Show | a0002c0003a0003c0004a0008c0009others(2): Show | a0002c0003t0003a0002c0003t0010a0002c0003t0027others(10): Show | a0002c0003t0003g0236a0002c0003t0003g0237a0002c0003t0003g0241others(41): Show | 44 | 308 | 0.1429 | -49 | c.-72 others(68): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72101436 | AGGCCAGC others(42): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0025a0026 | a0025c0031a0026c0030 | a0025c0031t0021a0026c0030t0021 | a0025c0031t0021g0017a0026c0030t0021g0018 | 2 | 308 | 0.0065 | -49 | c.-72 others(68): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72101467 | CGGGGTCA others(42): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 308 | 0.0033 | -49 | c.-72 others(68): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24113287 | TCTTTCTT others(42): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0054 | a0054c0045 | a0054c0045t0001 | a0054c0045t0001g0348 | 1 | 364 | 0.0028 | -49 | c.-13 others(60): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1153 | chr1 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235205 | CGGGATGG others(42): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0108 | 1 | 223 | 0.0045 | -49 | c.289 others(68): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
N6AMT1_chr21_28867191_28890367 | 28872794 | GGGGGGGA others(42): Show |
G | 3_prime_UTR_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0115 | 1 | 422 | 0.0024 | -49 | c.*35 others(60): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 6/6 | 3542 | chr21 | TogoVar | |||||
NAALAD2_chr11_90129663_90197894 | 90155655 | GTATGTAT others(42): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0281 | 1 | 364 | 0.0028 | -49 | c.797 others(66): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |