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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTCH2_chr11_47612317_47647559 | 47633505 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 NA18998.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 a0002c0002t0001g0051 a0002c0002t0001g0056 others(1): Show |
4 | 370 | 0.0108 | 30 | c.369 others(47): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
MTCL1_chr18_8700556_8837778 | 8705585 | A | ACGCCGCC others(23): Show |
5_prime_UTR_variant | MODIFIER | HG01515.hp2 | a0006 | a0006c0014 | a0006c0014t0022 | a0006c0014t0022g0115 | 1 | 336 | 0.0030 | 30 | c.-50 others(37): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 1/15 | 49 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0082 | 1 | 370 | 0.0027 | 30 | c.104 others(49): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show |
6 | 370 | 0.0162 | 30 | c.104 others(49): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18968.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0026g0098 |
3 | 370 | 0.0081 | 30 | c.104 others(49): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0118 | 1 | 370 | 0.0027 | 30 | c.104 others(49): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250632 | G | GAAGAAGA others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0204 |
2 | 294 | 0.0068 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250639 | A | AAGGAGGA others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0074 |
2 | 294 | 0.0068 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250681 | A | AAGAAGAA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 294 | 0.0034 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250682 | A | AGAAGAAG others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp2 others(23): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0001a0009c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0184 a0001c0001t0001g0187 others(11): Show |
26 | 294 | 0.0884 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250682 | A | AGAAGAAG others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 294 | 0.0034 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250682 | A | AGAAGAGG others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 294 | 0.0034 | 30 | c.677 others(45): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 151069251 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 226 | 0.0044 | 30 | c.284 others(51): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0128 others(3): Show |
6 | 342 | 0.0175 | 30 | c.126 others(47): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74187800 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 200 | 0.0050 | 30 | c.452 others(49): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74188742 | A | ATATGGGT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 200 | 0.0050 | 30 | c.452 others(49): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74203843 | C | CTAGTTTA others(23): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 414 | 0.0024 | 30 | c.102 others(47): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74203906 | G | GTTTAGTT others(23): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 414 | 0.0024 | 30 | c.102 others(47): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150583916 | T | TATATTAA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0165 others(2): Show |
5 | 277 | 0.0181 | 30 | c.-10 others(47): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150647194 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0115 |
2 | 277 | 0.0072 | 30 | c.867 others(47): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150647221 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 277 | 0.0036 | 30 | c.867 others(47): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
MTMR3_chr22_29878174_30035868 | 29896869 | T | TCACACAC others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0065 | a0001c0001t0003g0007 a0001c0001t0065g0301 |
2 | 334 | 0.0060 | 30 | c.-13 others(51): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MTMR7_chr8_17291794_17418351 | 17304746 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 a0001c0001t0008g0088 |
2 | 360 | 0.0056 | 30 | c.135 others(47): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0053 | 1 | 372 | 0.0027 | 30 | c.371 others(47): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | NA20300.hp1 NA20905.hp2 |
a0002 | a0002c0003 | a0002c0003t0013a0002c0003t0030 | a0002c0003t0013g0069 a0002c0003t0030g0096 |
2 | 372 | 0.0054 | 30 | c.371 others(47): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0026 | 1 | 372 | 0.0027 | 30 | c.371 others(47): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124564691 | T | TCACACAC others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0211 |
2 | 286 | 0.0070 | 30 | c.824 others(45): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 9/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0009 | a0003c0009t0010 | a0003c0009t0010g0006 | 1 | 286 | 0.0035 | 30 | c.209 others(49): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124619932 | T | TTTTTCTT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0003 | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0178 others(5): Show |
8 | 286 | 0.0280 | 30 | c.209 others(49): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS2_chr16_70656204_70691053 | 70660839 | G | GGCCCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0073 | a0001c0001t0024g0236 a0001c0001t0073g0219 |
2 | 398 | 0.0050 | 30 | c.*28 others(41): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 364 | chr16 | TogoVar | |||||||
MTSS2_chr16_70656204_70691053 | 70660839 | G | GGCCCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 NA18964.hp1 NA18966.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0006a0003c0005t0020 | a0001c0001t0001g0014 a0001c0001t0001g0133 a0001c0001t0006g0006 others(1): Show |
4 | 398 | 0.0101 | 30 | c.*28 others(41): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 364 | chr16 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 364 | 0.0028 | 30 | c.62- others(45): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588956 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18950.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0183 a0002c0002t0002g0280 |
2 | 364 | 0.0055 | 30 | c.394 others(45): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589003 | A | ATGTTCAT others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02451.hp2 HG02895.hp1 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0013 a0005c0005t0001g0120 a0005c0005t0001g0129 others(3): Show |
6 | 364 | 0.0165 | 30 | c.394 others(45): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00673.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0182 a0001c0001t0001g0185 others(17): Show |
25 | 426 | 0.0587 | 30 | c.162 others(47): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01516.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0206 a0001c0001t0001g0249 others(6): Show |
12 | 426 | 0.0282 | 30 | c.162 others(47): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0180 a0001c0002t0004g0083 |
2 | 426 | 0.0047 | 30 | c.162 others(47): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(23): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG03453.hp2 NA20300.hp1 |
a0003a0006a0027 | a0003c0006a0006c0019a0027c0085 | a0003c0006t0006a0006c0019t0002a0027c0085t0002 | a0003c0006t0006g0098 a0006c0019t0002g0185 a0027c0085t0002g0270 |
3 | 330 | 0.0091 | 30 | c.*40 others(41): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29350960 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 92 | 0.0109 | 30 | c.290 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29383252 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03490.hp2 HG03492.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0030a0001c0001t0031a0005c0006t0002 | a0001c0001t0030g0033 a0001c0001t0031g0032 a0005c0006t0002g0049 |
3 | 92 | 0.0326 | 30 | c.311 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389243 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0015 | 1 | 92 | 0.0109 | 30 | c.311 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195738099 | C | CTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0053 | 1 | 185 | 0.0054 | 30 | c.*48 others(41): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4549 | chr3 | TogoVar | |||||||
MUC22_chr6_31005474_31040402 | 31021203 | G | GGAGAGTC others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0086 | a0086c0098 | a0086c0098t0003 | a0086c0098t0003g0192 | 1 | 461 | 0.0022 | 30 | c.71- others(45): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC22_chr6_31005474_31040402 | 31026763 | A | AGAGACCA others(23): Show |
disruptive_inframe_insertion | MODERATE | HG03209.hp1 | a0099 | a0099c0114 | a0099c0114t0003 | a0099c0114t0003g0117 | 1 | 461 | 0.0022 | 30 | c.134 others(39): Show |
p.Thr others(43): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1604/6019 | 1371/5322 | 457/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31028873 | A | ACCTCTAC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(24): Show |
a0007a0049a0051others(4): Show | a0007c0005a0007c0052a0007c0086others(8): Show | a0007c0005t0001a0007c0005t0002a0007c0052t0001others(9): Show | a0007c0005t0001g0021 a0007c0005t0001g0027 a0007c0005t0001g0046 others(17): Show |
27 | 461 | 0.0586 | 30 | c.346 others(39): Show |
p.Thr others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3727/6019 | 3494/5322 | 1165/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31028943 | C | CAGGCTCT others(23): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00733.hp2 others(23): Show |
a0007a0049a0051others(3): Show | a0007c0005a0007c0052a0007c0086others(7): Show | a0007c0005t0001a0007c0005t0002a0007c0052t0001others(8): Show | a0007c0005t0001g0021 a0007c0005t0001g0027 a0007c0005t0001g0046 others(16): Show |
26 | 461 | 0.0564 | 30 | c.355 others(39): Show |
p.Thr others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3816/6019 | 3583/5322 | 1195/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31028954 | A | ACCACCAC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp1 | a0067 | a0067c0088 | a0067c0088t0001 | a0067c0088t0001g0102 | 1 | 461 | 0.0022 | 30 | c.355 others(39): Show |
p.Glu others(45): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3786/6019 | 3553/5322 | 1185/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31029718 | T | TACTGCAG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01884.hp2 HG06807.hp2 |
a0049a0070 | a0049c0047a0070c0109 | a0049c0047t0001a0070c0109t0001 | a0049c0047t0001g0050 a0070c0109t0001g0094 |
3 | 461 | 0.0065 | 30 | c.429 others(39): Show |
p.Thr others(45): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 4525/6019 | 4292/5322 | 1431/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31029723 | A | AAGGCTCT others(23): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00558.hp1 HG02080.hp2 others(12): Show |
a0017a0023a0054others(3): Show | a0017c0020a0023c0039a0023c0164others(5): Show | a0017c0020t0001a0023c0039t0001a0023c0164t0001others(5): Show | a0017c0020t0001g0013 a0017c0020t0001g0193 a0017c0020t0001g0195 others(9): Show |
15 | 461 | 0.0325 | 30 | c.435 others(39): Show |
p.Ala others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 4614/6019 | 4381/5322 | 1461/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195767630 | T | TCACTGCC others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0033 | a0033c0033 | a0033c0033t0002 | a0033c0033t0002g0194 | 1 | 249 | 0.0040 | 30 | c.135 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar |