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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCCC2_chr5_71582340_71663706 | 71633091 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0218 a0001c0001t0001g0261 a0001c0001t0001g0296 others(100): Show |
109 | 350 | 0.3114 | -20 | c.803 others(35): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113036012 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0028 | a0001c0028t0043 | a0001c0028t0043g0079 | 1 | 160 | 0.0063 | -20 | c.275 others(39): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 17/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113145737 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0001c0010others(14): Show | a0001c0004t0035a0001c0007t0006a0001c0007t0020others(18): Show | a0001c0004t0035g0084 a0001c0007t0006g0078 a0001c0007t0006g0102 others(22): Show |
25 | 160 | 0.1563 | -20 | c.742 others(37): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113145765 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp1 HG01167.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0007others(13): Show | a0001c0003t0001a0001c0004t0002a0001c0004t0003others(18): Show | a0001c0003t0001g0083 a0001c0004t0002g0098 a0001c0004t0003g0092 others(28): Show |
31 | 160 | 0.1938 | -20 | c.742 others(37): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113161620 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01258.hp2 NA18972.hp2 NA18983.hp1 others(1): Show |
a0001a0002 | a0001c0022a0002c0001a0002c0002 | a0001c0022t0001a0002c0001t0002a0002c0002t0001 | a0001c0022t0001g0032 a0002c0001t0002g0133 a0002c0002t0001g0140 others(1): Show |
4 | 160 | 0.0250 | -20 | c.628 others(39): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113459133 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0025 | a0001c0025t0041a0001c0025t0042 | a0001c0025t0041g0063 a0001c0025t0042g0062 |
2 | 160 | 0.0125 | -20 | c.170 others(39): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71133603 | CTTTCCTC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0210 | 1 | 418 | 0.0024 | -20 | c.-34 others(31): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 3375 | chr2 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183206910 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0004 | a0004c0004t0023 | a0004c0004t0023g0169 | 1 | 176 | 0.0057 | -20 | c.271 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183206914 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01169.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0100 others(7): Show |
10 | 176 | 0.0568 | -20 | c.271 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183206955 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0016a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(12): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0079 others(24): Show |
27 | 176 | 0.1534 | -20 | c.271 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183206959 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02970.hp2 NA18522.hp1 |
a0001a0012a0022 | a0001c0016a0012c0013a0022c0021 | a0001c0016t0025a0012c0013t0002a0022c0021t0003 | a0001c0016t0025g0166 a0012c0013t0002g0155 a0022c0021t0003g0027 |
3 | 176 | 0.0171 | -20 | c.271 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183216576 | ATATATTT others(13): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0155 | 1 | 176 | 0.0057 | -20 | c.237 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183216578 | ATATTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0012 | a0012c0013 | a0012c0013t0026 | a0012c0013t0026g0174 | 1 | 176 | 0.0057 | -20 | c.237 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183342620 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02155.hp1 HG02622.hp1 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0002a0002c0002t0001a0004c0004t0001others(6): Show | a0001c0001t0002g0146 a0002c0002t0001g0020 a0004c0004t0001g0135 others(6): Show |
9 | 176 | 0.0511 | -20 | c.276 others(36): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183351190 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01361.hp1 |
a0005a0007 | a0005c0006a0007c0005 | a0005c0006t0003a0007c0005t0001 | a0005c0006t0003g0142 a0007c0005t0001g0085 |
2 | 176 | 0.0114 | -20 | c.276 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183351230 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0015 | a0015c0015 | a0015c0015t0004 | a0015c0015t0004g0125 | 1 | 176 | 0.0057 | -20 | c.276 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183360956 | CAGAAAAG others(13): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG02257.hp2 HG02717.hp1 others(13): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0016a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0025others(10): Show | a0001c0001t0001g0134 a0001c0001t0002g0161 a0001c0016t0025g0166 others(13): Show |
16 | 176 | 0.0909 | -20 | c.275 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113012687 | TGCAGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0005others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(8): Show |
11 | 116 | 0.0948 | -20 | c.80- others(35): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113034864 | GGAGGTGA others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | -20 | c.278 others(39): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113055382 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0014 | a0004c0014t0024 | a0004c0014t0024g0100 | 1 | 116 | 0.0086 | -20 | c.370 others(37): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139696341 | TCTCTCCT others(13): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 249 | 0.0040 | -20 | c.-45 others(39): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1/28 | chrX | TogoVar | |||||||
MCM10_chr10_13156558_13216110 | 13158723 | TGGAGTGC others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 432 | 0.0023 | -20 | c.-29 others(31): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 2834 | chr10 | TogoVar | |||||||
MCM10_chr10_13156558_13216110 | 13166657 | CATACATA others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0147 a0001c0012t0001g0271 |
2 | 432 | 0.0046 | -20 | c.7+2 others(33): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13195582 | GTTTATTT others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(220): Show |
a0001a0006a0007others(6): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0025 others(202): Show |
223 | 432 | 0.5162 | -20 | c.197 others(37): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13204990 | GTATGTAT others(13): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02723.hp2 HG03098.hp2 others(3): Show |
a0001a0019 | a0001c0001a0001c0004a0019c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0361 a0001c0001t0002g0305 a0001c0001t0010g0391 others(3): Show |
6 | 432 | 0.0139 | -20 | c.249 others(37): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCM5_chr22_35395140_35430431 | 35416511 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01070.hp2 others(40): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0002g0006 others(29): Show |
43 | 404 | 0.1064 | -20 | c.141 others(35): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MCM6_chr2_135834626_135881443 | 135835482 | GTATATAT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0002g0013 |
3 | 394 | 0.0076 | -20 | c.*53 others(31): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 4143 | chr2 | TogoVar | |||||||
MCM6_chr2_135834626_135881443 | 135863723 | TAACAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0095 | 1 | 394 | 0.0025 | -20 | c.107 others(37): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 7/16 | chr2 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119836757 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 a0001c0004t0001g0360 a0001c0004t0001g0361 others(1): Show |
5 | 400 | 0.0125 | -20 | c.154 others(37): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 13/15 | chr10 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119854540 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(45): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0003a0001c0001t0009a0001c0001t0016others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0051 others(40): Show |
48 | 400 | 0.1200 | -20 | c.430 others(37): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 5/15 | chr10 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119872917 | CGCGCGGC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0195 |
2 | 400 | 0.0050 | -20 | c.-35 others(29): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 75 | chr10 | TogoVar | |||||||
MCOLN1_chr19_7517624_7539009 | 7530164 | GGCCATTC others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(107): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0004c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0004c0010t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0024 others(38): Show |
110 | 414 | 0.2657 | -20 | c.136 others(36): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84996393 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0134 others(48): Show |
55 | 350 | 0.1571 | -20 | c.77+ others(33): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6465927 | CCATCCAT others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001a0003 | a0001c0064a0003c0066 | a0001c0064t0004a0003c0066t0007 | a0001c0064t0004g0242 a0003c0066t0007g0243 |
2 | 262 | 0.0076 | -20 | c.193 others(41): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6499066 | TTAAATAA others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG02040.hp1 others(12): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0007a0001c0022others(12): Show | a0001c0001t0001a0001c0007t0001a0001c0022t0001others(12): Show | a0001c0001t0001g0250 a0001c0007t0001g0138 a0001c0022t0001g0248 others(12): Show |
15 | 262 | 0.0573 | -20 | c.213 others(37): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6594676 | CCTGCAGG others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(32): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0090others(20): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0056others(27): Show | a0001c0001t0001g0007 a0001c0001t0001g0174 a0001c0001t0001g0207 others(32): Show |
35 | 262 | 0.1336 | -20 | c.221 others(41): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCRIP1_chr17_81817361_81838291 | 81829601 | TGGTTTTT others(13): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 366 | 0.0027 | -20 | c.-49 others(37): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94947575 | TATAGAGA others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0061 | 1 | 98 | 0.0102 | -20 | c.982 others(37): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94954083 | TATATATG others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0052 a0001c0001t0003g0078 a0001c0001t0003g0082 others(14): Show |
17 | 98 | 0.1735 | -20 | c.839 others(35): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94954139 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 98 | 0.0102 | -20 | c.839 others(35): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94954163 | TATATACA others(13): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0040 a0001c0001t0016g0048 |
2 | 98 | 0.0204 | -20 | c.839 others(35): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95009056 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 98 | 0.0102 | -20 | c.838 others(37): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95134992 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0016a0001c0006t0005 | a0001c0001t0005g0046 a0001c0001t0016g0048 a0001c0006t0005g0049 |
3 | 98 | 0.0306 | -20 | c.721 others(41): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95140693 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0007a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0007g0034 a0001c0001t0016g0040 a0001c0002t0001g0031 others(1): Show |
4 | 98 | 0.0408 | -20 | c.721 others(41): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95201464 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0015a0001c0003t0002a0001c0004t0001others(3): Show | a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0003t0002g0022 others(4): Show |
7 | 98 | 0.0714 | -20 | c.720 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94298996 | CCTCTCCC others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01928.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0025 | a0002c0003t0007g0065 a0002c0003t0007g0067 a0002c0003t0007g0250 others(1): Show |
4 | 276 | 0.0145 | -20 | c.465 others(35): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94426121 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0032 | a0001c0001t0012g0075 a0001c0001t0012g0100 a0001c0001t0032g0081 |
3 | 276 | 0.0109 | -20 | c.208 others(41): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94476605 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02818.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0014a0001c0001t0054a0001c0002t0001others(2): Show | a0001c0001t0014g0076 a0001c0001t0054g0159 a0001c0002t0001g0167 others(2): Show |
5 | 276 | 0.0181 | -20 | c.247 others(35): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94476633 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0016 | a0001c0016t0047 | a0001c0016t0047g0174 | 1 | 276 | 0.0036 | -20 | c.247 others(35): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTS1_chrX_120599101_120626159 | 120612667 | GTGTGTGT others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0003 | 1 | 316 | 0.0032 | -20 | c.*42 others(29): Show |
MCTS1 | ENSG00000232119.8 | transcript | ENST00000371317.10 | protein_coding | 6/6 | 423 | INFO_REALIGN_3_PRIME | chrX | TogoVar |