view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGAM_chr7_141990879_142111747 | 142041910 | TATATACG others(42): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG03209.hp1 others(3): Show |
a0005a0006a0033 | a0005c0010a0005c0068a0006c0009others(1): Show | a0005c0010t0001a0005c0068t0003a0006c0009t0002others(1): Show | a0005c0010t0001g0099 a0005c0010t0001g0118 a0005c0068t0003g0084 others(3): Show |
6 | 314 | 0.0191 | -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 | a0029 | a0029c0044 | a0029c0044t0001 | a0029c0044t0001g0181 | 1 | 296 | 0.0034 | -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 | 192 | 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 | a0002c0001t0002g0020 | 1 | 365 | 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 | a0001c0001t0012g0159 | 1 | 278 | 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 | a0001c0002t0002g0038 | 2 | 387 | 0.0052 | -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 | 210 | 0.0048 | -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 | a0001c0001t0003g0183 | 1 | 436 | 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 |
a0007a0014 | a0007c0007a0014c0020 | a0007c0007t0002a0014c0020t0002a0014c0020t0009 | a0007c0007t0002g0032 a0007c0007t0002g0033 a0007c0007t0002g0034 others(6): Show |
9 | 283 | 0.0318 | -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 | a0002c0002t0002g0099 | 1 | 283 | 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 | a0001c0001t0004g0152 | 1 | 197 | 0.0051 | -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 | a0002c0049t0002g0063 | 1 | 250 | 0.0040 | -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 | a0004c0005t0001g0191 | 1 | 281 | 0.0036 | -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 | a0001c0001t0001g0062 | 1 | 352 | 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 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 380 | 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 |
a0001 | a0001c0002a0001c0006a0001c0021others(2): Show | a0001c0002t0007a0001c0002t0008a0001c0002t0012others(36): Show | a0001c0002t0007g0115 a0001c0002t0007g0116 a0001c0002t0007g0119 others(67): Show |
70 | 310 | 0.2258 | -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 | 361 | 0.0028 | -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 |
a0004a0065a0072others(2): Show | a0004c0120a0065c0065a0072c0121others(2): Show | a0004c0120t0001a0065c0065t0001a0072c0121t0001others(2): Show | a0004c0120t0001g0362 a0065c0065t0001g0364 a0072c0121t0001g0363 others(2): Show |
5 | 376 | 0.0133 | -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 | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0208 others(54): Show |
57 | 218 | 0.2615 | -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 | a0001c0002t0001g0011 a0001c0003t0001g0007 a0001c0003t0001g0008 others(9): Show |
12 | 254 | 0.0472 | -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 | a0001c0015t0001g0218 | 1 | 234 | 0.0043 | -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 | a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0002t0001g0011 others(19): Show |
22 | 254 | 0.0866 | -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 | a0001c0001t0001g0032 a0001c0009t0001g0032 a0001c0009t0001g0091 |
3 | 407 | 0.0074 | -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(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0023 others(35): Show |
86 | 444 | 0.1937 | -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 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0069 others(4): Show |
14 | 444 | 0.0315 | -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 | 443 | 0.0023 | -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 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 408 | 0.0025 | -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 | a0002c0003t0018 | a0002c0003t0018g0094 | 1 | 408 | 0.0025 | -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(88): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0035 others(50): Show |
91 | 460 | 0.1978 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show |
14 | 460 | 0.0304 | -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 | a0001c0001t0001g0130 | 1 | 459 | 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 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0052 | 1 | 369 | 0.0027 | -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 | 284 | 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 | a0001c0001t0003g0260 | 1 | 310 | 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 | a0001c0001t0003g0057 | 1 | 78 | 0.0128 | -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 | a0001c0001t0003g0061 | 1 | 310 | 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(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(34): Show |
76 | 412 | 0.1845 | -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 |
a0001a0005 | a0001c0012a0005c0027 | a0001c0012t0004a0005c0027t0004 | a0001c0012t0004g0001 a0001c0012t0004g0002 a0005c0027t0004g0003 |
3 | 254 | 0.0118 | -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 | a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 others(4): Show |
7 | 254 | 0.0276 | -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 | 224 | 0.0045 | -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 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0022 | a0001c0001t0001g0181 a0007c0009t0022g0263 |
2 | 306 | 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 |
a0002a0003a0007others(1): Show | a0002c0003a0003c0004a0007c0009others(2): Show | a0002c0003t0003a0002c0003t0025a0002c0003t0031others(7): Show | a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0241 others(41): Show |
44 | 306 | 0.1438 | -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 |
a0021a0022 | a0021c0030a0022c0031 | a0021c0030t0018a0022c0031t0018 | a0021c0030t0018g0018 a0022c0031t0018g0017 |
2 | 304 | 0.0066 | -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 | a0001c0001t0001g0165 | 1 | 306 | 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 | a0037 | a0037c0045 | a0037c0045t0001 | a0037c0045t0001g0344 | 1 | 362 | 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 | a0001c0002t0005g0129 | 1 | 222 | 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 | a0001c0001t0034g0084 | 1 | 420 | 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 | a0004c0005t0004g0268 | 1 | 362 | 0.0028 | -49 | c.797 others(66): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90155665 | TTATTGTA others(42): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0324 a0001c0002t0004g0255 a0001c0002t0004g0256 others(4): Show |
7 | 362 | 0.0193 | -49 | c.797 others(66): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175132063 | AGGGGCGG others(42): Show |
A | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 NA18906.hp2 |
a0004a0006a0007 | a0004c0002a0006c0009a0007c0014 | a0004c0002t0008a0006c0009t0022a0007c0014t0004 | a0004c0002t0008g0039 a0006c0009t0022g0035 a0007c0014t0004g0040 |
3 | 63 | 0.0476 | -49 | c.545 others(68): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |