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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPS28_chr8_79913717_80035259 | 79991909 | GCTCTCTC others(11): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp1 NA18941.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0034 a0001c0001t0001g0126 a0001c0001t0001g0145 others(3): Show |
6 | 300 | 0.0200 | -18 | c.395 others(37): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
MRPS2_chr9_135495682_135509671 | 135506797 | GCCCTCTG others(11): Show |
G | downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | -18 | c.*26 others(29): Show |
MRPS2 | ENSG00000122140.13 | transcript | ENST00000241600.10 | protein_coding | 2127 | chr9 | TogoVar | |||||||
MRPS31_chr13_40724128_40776190 | 40762781 | ATTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 404 | 0.0025 | -18 | c.441 others(35): Show |
MRPS31 | ENSG00000102738.8 | transcript | ENST00000323563.8 | protein_coding | 2/6 | chr13 | TogoVar | |||||||
MRPS31_chr13_40724128_40776190 | 40762782 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0291 others(31): Show |
50 | 404 | 0.1238 | -18 | c.441 others(35): Show |
MRPS31 | ENSG00000102738.8 | transcript | ENST00000323563.8 | protein_coding | 2/6 | chr13 | TogoVar | |||||||
MRPS31_chr13_40724128_40776190 | 40769373 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 |
3 | 404 | 0.0074 | -18 | c.152 others(35): Show |
MRPS31 | ENSG00000102738.8 | transcript | ENST00000323563.8 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
MRPS35_chr12_27705832_27761295 | 27732987 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0073 others(18): Show |
24 | 358 | 0.0670 | -18 | c.523 others(35): Show |
MRPS35 | ENSG00000061794.13 | transcript | ENST00000081029.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRRF_chr9_122259882_122336337 | 122325631 | GGTGTGTG others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0030a0001c0001t0078a0001c0001t0099others(2): Show | a0001c0001t0030g0068 a0001c0001t0030g0194 a0001c0001t0078g0025 others(3): Show |
6 | 264 | 0.0227 | -18 | c.*30 others(29): Show |
MRRF | ENSG00000148187.18 | transcript | ENST00000344641.8 | protein_coding | 7/7 | 3051 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40457423 | TGAAAGAA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02080.hp1 HG02155.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0002g0017 a0001c0001t0002g0039 others(5): Show |
8 | 256 | 0.0313 | -18 | c.307 others(35): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40466849 | AATTTATG others(11): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA18612.hp1 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 others(3): Show |
6 | 256 | 0.0234 | -18 | c.242 others(35): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40470229 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0057 |
2 | 256 | 0.0078 | -18 | c.242 others(35): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40470231 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02896.hp2 NA18970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0200 a0001c0001t0003g0175 a0001c0001t0003g0178 others(2): Show |
5 | 256 | 0.0195 | -18 | c.242 others(35): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40571026 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0002t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 others(8): Show |
11 | 256 | 0.0430 | -18 | c.-21 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 2/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40637657 | ATGTATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA19011.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0128 a0001c0004t0002g0157 |
2 | 256 | 0.0078 | -18 | c.-12 others(29): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 939 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40637705 | GTGTATAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0139 | 1 | 256 | 0.0039 | -18 | c.-13 others(29): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 987 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFB_chr16_14066319_14271773 | 14112119 | ATAAAGAA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01109.hp2 others(66): Show |
a0001a0004a0007 | a0001c0002a0001c0004a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0206 a0001c0002t0002g0001 a0001c0002t0002g0004 others(65): Show |
69 | 240 | 0.2875 | -18 | c.-63 others(37): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MRTFB_chr16_14066319_14271773 | 14141354 | AATACTGT others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0082 a0001c0001t0033g0081 |
2 | 240 | 0.0083 | -18 | c.154 others(33): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MRTFB_chr16_14066319_14271773 | 14241964 | CAATAATA others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01515.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0003others(2): Show | a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0216 others(18): Show |
21 | 240 | 0.0875 | -18 | c.107 others(37): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MS4A12_chr11_60487778_60512430 | 60490868 | GTCCCTCT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0007 a0001c0003t0002g0041 a0001c0003t0002g0047 others(3): Show |
18 | 432 | 0.0417 | -18 | c.-19 others(29): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 1909 | chr11 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418991 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 428 | 0.0023 | -18 | c.*19 others(29): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1236 | chr11 | TogoVar | |||||||
MS4A3_chr11_60051665_60076115 | 60058506 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0021 a0001c0001t0001g0099 a0001c0002t0002g0100 |
5 | 408 | 0.0123 | -18 | c.-16 others(35): Show |
MS4A3 | ENSG00000149516.15 | transcript | ENST00000278865.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MS4A4A_chr11_60275666_60313970 | 60289577 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01515.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0041 a0003c0003t0002g0194 a0003c0003t0002g0195 |
4 | 430 | 0.0093 | -18 | c.42- others(33): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MS4A4A_chr11_60275666_60313970 | 60294892 | ACTTCTTC others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0070 others(8): Show |
13 | 430 | 0.0302 | -18 | c.202 others(35): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60195587 | CTGTGTGT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0307 | 1 | 410 | 0.0024 | -18 | c.*59 others(29): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 4682 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60195619 | GTGTGTGT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0014 | a0001c0001t0015g0131 a0001c0002t0014g0314 |
2 | 410 | 0.0049 | -18 | c.*59 others(29): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 4650 | chr11 | TogoVar | |||||||
MS4A6E_chr11_60322255_60346341 | 60342174 | TGTGTGAG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0116 | 1 | 450 | 0.0022 | -18 | c.*14 others(29): Show |
MS4A6E | ENSG00000166926.9 | transcript | ENST00000684409.1 | protein_coding | 834 | chr11 | TogoVar | |||||||
MSANTD2_chr11_124761498_124805406 | 124802353 | GGTGTGTG others(11): Show |
G | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 324 | 0.0031 | -18 | c.-19 others(29): Show |
MSANTD2 | ENSG00000120458.13 | transcript | ENST00000374979.8 | protein_coding | 1948 | chr11 | TogoVar | |||||||
MSH2_chr2_47398156_47488223 | 47413548 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0368 | 1 | 370 | 0.0027 | -18 | c.793 others(33): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47449015 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01255.hp1 others(10): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0167 others(10): Show |
13 | 370 | 0.0351 | -18 | c.138 others(37): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80654880 | TGCAGCGG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | NA18952.hp2 NA18974.hp2 NA18999.hp2 others(2): Show |
a0007 | a0007c0009 | a0007c0009t0002a0007c0009t0016 | a0007c0009t0002g0041 a0007c0009t0002g0066 a0007c0009t0002g0076 others(2): Show |
5 | 362 | 0.0138 | -18 | c.162 others(25): Show |
p.Ala others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 238/4443 | 162/3414 | 54/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80748691 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA18999.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0133 | 1 | 362 | 0.0028 | -18 | c.176 others(37): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75896346 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(50): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0009 | a0001c0002t0001a0002c0003t0001a0002c0009t0001 | a0001c0002t0001g0002 a0002c0003t0001g0001 a0002c0003t0001g0003 others(49): Show |
53 | 332 | 0.1596 | -18 | c.235 others(37): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75902673 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03831.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0205 a0001c0001t0001g0238 a0001c0001t0001g0251 others(1): Show |
4 | 332 | 0.0121 | -18 | c.261 others(37): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH5_chr6_31735005_31767676 | 31739111 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02300.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0137 |
2 | 397 | 0.0050 | -18 | c.-96 others(27): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 893 | chr6 | TogoVar | |||||||
MSH5_chr6_31735005_31767676 | 31741336 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0310 a0001c0002t0001g0311 others(6): Show |
13 | 397 | 0.0328 | -18 | c.271 others(31): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MSH6_chr2_47778145_47811953 | 47788906 | CCTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02129.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | 390 | 0.0103 | -18 | c.261 others(35): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
MSI1_chr12_120336330_120374164 | 120361204 | GGTCAATC others(11): Show |
G | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 348 | 0.0029 | -18 | c.402 others(35): Show |
MSI1 | ENSG00000135097.7 | transcript | ENST00000257552.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
MSI2_chr17_57251523_57689689 | 57347486 | GCATGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0064a0001c0001t0092 | a0001c0001t0026g0148 a0001c0001t0064g0062 a0001c0001t0092g0114 |
3 | 168 | 0.0179 | -18 | c.313 others(37): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57440413 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0033 | 1 | 168 | 0.0060 | -18 | c.405 others(37): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57477145 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01258.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0010 a0001c0001t0003g0054 a0001c0001t0006g0104 others(6): Show |
9 | 168 | 0.0536 | -18 | c.406 others(37): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57502602 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0050 a0001c0001t0013g0133 |
2 | 168 | 0.0119 | -18 | c.406 others(37): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57547741 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00673.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0142 a0001c0001t0002g0099 others(15): Show |
18 | 168 | 0.1071 | -18 | c.454 others(37): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSL1_chr17_40116971_40141917 | 40118724 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 356 | 0.0028 | -18 | c.-38 others(29): Show |
MSL1 | ENSG00000188895.12 | transcript | ENST00000398532.9 | protein_coding | 3246 | chr17 | TogoVar | |||||||
MSN_chrX_65662654_65746931 | 65670896 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 170 | 0.0059 | -18 | c.12+ others(33): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16108184 | TAATAGTA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01175.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0036a0002c0002t0013 | a0001c0001t0013g0240 a0001c0001t0013g0247 a0001c0001t0013g0305 others(2): Show |
5 | 330 | 0.0152 | -18 | c.*18 others(29): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 10/10 | 1883 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16139758 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 330 | 0.0030 | -18 | c.103 others(37): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16139762 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 330 | 0.0030 | -18 | c.103 others(37): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16139766 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0048 | a0001c0003t0048g0324 | 1 | 330 | 0.0030 | -18 | c.103 others(37): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16139770 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0298 |
2 | 330 | 0.0061 | -18 | c.103 others(37): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16139774 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01070.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0007t0004others(1): Show | a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0271 others(5): Show |
8 | 330 | 0.0242 | -18 | c.103 others(37): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
MSRA_chr8_10049292_10433891 | 10074058 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0048 a0001c0001t0004g0052 a0001c0001t0007g0050 others(2): Show |
5 | 286 | 0.0175 | -18 | c.142 others(37): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |