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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTFR1L_chr1_25814954_25837938 | 25819429 | T | TGTGTGTG others(21): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 2 | 402 | 0.0050 | 28 | c.-68 others(37): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 524 | chr1 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65712739 | A | AGCCTCAA others(21): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 348 | 0.0029 | 28 | c.*36 others(39): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 2178 | chr8 | TogoVar | |||||||
MTG2_chr20_62178028_62208568 | 62183065 | C | CGGGAGCG others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 412 | 0.0024 | 28 | c.-6+ others(39): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150932812 | G | GAAGGAGG others(21): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0001c0001t0009a0002c0005t0002 | a0001c0001t0005g0081 a0001c0001t0009g0162 a0002c0005t0002g0180 |
3 | 226 | 0.0133 | 28 | c.125 others(47): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150932816 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0152 | 1 | 226 | 0.0044 | 28 | c.125 others(47): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01175.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0033 others(15): Show |
18 | 342 | 0.0526 | 28 | c.126 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 200 | 0.0050 | 28 | c.452 others(47): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74291003 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 200 | 0.0050 | 28 | c.931 others(45): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79864547 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0151 | 1 | 394 | 0.0025 | 28 | c.380 others(47): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
MTM1_chrX_150563621_150678143 | 150647221 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 277 | 0.0036 | 28 | c.867 others(45): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
MTMR3_chr22_29878174_30035868 | 29896869 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18945.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0017 | a0001c0001t0017g0299 a0001c0002t0017g0302 |
2 | 334 | 0.0060 | 28 | c.-13 others(49): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MTMR6_chr13_25241222_25292488 | 25274939 | G | GACAGACA others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02165.hp1 HG02738.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0001 | a0001c0003t0003g0097 a0001c0003t0003g0107 a0002c0001t0001g0170 others(1): Show |
4 | 346 | 0.0116 | 28 | c.25- others(41): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
MTMR6_chr13_25241222_25292488 | 25288883 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0072 a0001c0003t0014g0073 |
2 | 346 | 0.0058 | 28 | c.-16 others(39): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1396 | chr13 | TogoVar | |||||||
MTMR6_chr13_25241222_25292488 | 25288905 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0135 | 1 | 346 | 0.0029 | 28 | c.-16 others(39): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1418 | chr13 | TogoVar | |||||||
MTMR6_chr13_25241222_25292488 | 25288907 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0120 a0001c0002t0012g0131 |
2 | 346 | 0.0058 | 28 | c.-16 others(39): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1420 | chr13 | TogoVar | |||||||
MTMR7_chr8_17291794_17418351 | 17304746 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0209 | 1 | 360 | 0.0028 | 28 | c.135 others(45): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
MTMR9_chr8_11279816_11333146 | 11287693 | T | TTATTATA others(21): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020 | a0001c0001t0013g0201 a0001c0001t0013g0202 a0001c0001t0020g0012 |
5 | 348 | 0.0144 | 28 | c.182 others(45): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTMR9_chr8_11279816_11333146 | 11288025 | A | ATATATAA others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0001 | a0001c0007 | a0001c0007t0019 | a0001c0007t0019g0062 a0001c0007t0019g0064 |
2 | 348 | 0.0058 | 28 | c.182 others(45): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11264863 | C | CAAATAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0015 others(60): Show |
63 | 256 | 0.2461 | 28 | c.-24 others(39): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 2313 | chr1 | TogoVar | |||||||
MTOR_chr1_11101535_11267551 | 11264879 | T | TAAATAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG03491.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0013a0001c0023 | a0001c0001t0002a0001c0013t0002a0001c0023t0002 | a0001c0001t0002g0033 a0001c0013t0002g0021 a0001c0023t0002g0059 |
3 | 256 | 0.0117 | 28 | c.-24 others(39): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 2329 | chr1 | TogoVar | |||||||
MTRR_chr5_7864148_7906113 | 7887538 | A | ATATATGT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG03688.hp2 |
a0003 | a0003c0016a0003c0026 | a0003c0016t0010a0003c0026t0016 | a0003c0016t0010g0053 a0003c0016t0010g0245 a0003c0026t0016g0246 |
3 | 428 | 0.0070 | 28 | c.114 others(45): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTRR_chr5_7864148_7906113 | 7887555 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0127 | 1 | 428 | 0.0023 | 28 | c.114 others(45): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTRR_chr5_7864148_7906113 | 7887793 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0114 | 1 | 428 | 0.0023 | 28 | c.114 others(47): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(21): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 372 | 0.0027 | 28 | c.371 others(45): 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(21): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 372 | 0.0027 | 28 | c.371 others(45): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897302 | A | ACACACAT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02602.hp2 |
a0002 | a0002c0003 | a0002c0003t0013a0002c0003t0030 | a0002c0003t0013g0077 a0002c0003t0030g0095 |
2 | 372 | 0.0054 | 28 | c.371 others(45): 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(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0040 a0001c0003t0001g0029 |
2 | 286 | 0.0070 | 28 | c.824 others(43): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 9/13 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0111 |
4 | 364 | 0.0110 | 28 | c.62- others(43): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588698 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0279 | 1 | 364 | 0.0028 | 28 | c.394 others(43): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588704 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01257.hp1 HG01258.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0089 a0002c0002t0002g0090 others(7): Show |
11 | 364 | 0.0302 | 28 | c.394 others(43): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588902 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0019 | a0019c0024 | a0019c0024t0002 | a0019c0024t0002g0202 | 1 | 364 | 0.0028 | 28 | c.394 others(43): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589005 | A | ATGTTCAT others(21): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02622.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show |
6 | 364 | 0.0165 | 28 | c.394 others(43): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0258 others(8): Show |
15 | 426 | 0.0352 | 28 | c.162 others(45): 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(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(172): Show |
213 | 426 | 0.5000 | 28 | c.162 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02074.hp1 HG02083.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0002t0003 | a0001c0001t0002g0048 a0001c0001t0013g0128 a0001c0002t0003g0095 |
4 | 426 | 0.0094 | 28 | c.162 others(45): 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(21): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0100 | 1 | 330 | 0.0030 | 28 | c.*40 others(39): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(21): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0009 | a0002c0009t0011 | a0002c0009t0011g0097 | 1 | 330 | 0.0030 | 28 | c.*40 others(39): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(21): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0128 | 1 | 330 | 0.0030 | 28 | c.*40 others(39): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29286668 | G | GTCTATCT others(21): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0061 | 1 | 92 | 0.0109 | 28 | c.280 others(47): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29286672 | G | GTCTATCT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0047 a0002c0002t0008g0092 |
2 | 92 | 0.0217 | 28 | c.280 others(47): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29350960 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18988.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0017a0004c0008t0009 | a0001c0001t0017g0025 a0004c0008t0009g0072 |
2 | 92 | 0.0217 | 28 | c.290 others(47): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29383252 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00621.hp2 others(13): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0008a0005c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 others(13): Show |
16 | 92 | 0.1739 | 28 | c.311 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29383252 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 | 1 | 92 | 0.0109 | 28 | c.311 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389290 | T | TGTGTGTA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0008 | a0004c0008t0009 | a0004c0008t0009g0072 | 1 | 92 | 0.0109 | 28 | c.311 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | chr13 | TogoVar | |||||||
MUC20_chr3_195715978_195738551 | 195738099 | C | CTGTGTGT others(21): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0045 | a0045c0031 | a0045c0031t0002 | a0045c0031t0002g0029 | 1 | 185 | 0.0054 | 28 | c.*48 others(39): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4549 | chr3 | TogoVar | |||||||
MUC21_chr6_30978718_30994903 | 30992424 | T | TTTTTCTT others(21): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 448 | 0.0022 | 28 | c.*42 others(39): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2522 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195772720 | G | GGGTGTGG others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0104 | a0104c0140 | a0104c0140t0002 | a0104c0140t0002g0062 | 1 | 249 | 0.0040 | 28 | c.130 others(47): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775440 | C | CCATACCT others(21): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0034 | 1 | 249 | 0.0040 | 28 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110676343 | C | CATATATT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(12): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0151 others(12): Show |
15 | 326 | 0.0460 | 28 | c.80- others(43): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681008 | A | ATATATAA others(21): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0289 | 1 | 326 | 0.0031 | 28 | c.80- others(43): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |