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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP1_chr5_94698690_95290094 | 94730914 | AACACACT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(40): Show | a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0052 others(69): Show |
72 | 98 | 0.7347 | -15 | c.261 others(36): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94912428 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02895.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0013a0001c0006t0034 | a0001c0001t0013g0050 a0001c0006t0034g0055 |
2 | 98 | 0.0204 | -15 | c.152 others(32): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95061408 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 | 1 | 98 | 0.0102 | -15 | c.721 others(34): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94257566 | GTTGTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(95): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0047 others(95): Show |
98 | 276 | 0.3551 | -15 | c.-66 others(34): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94257569 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 276 | 0.0036 | -15 | c.-66 others(34): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94318272 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0047 others(122): Show |
125 | 276 | 0.4529 | -15 | c.637 others(32): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94467873 | CAAATGTA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0048others(5): Show | a0001c0001t0001g0099 a0001c0001t0001g0147 a0001c0001t0001g0177 others(21): Show |
24 | 276 | 0.0870 | -15 | c.236 others(34): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109656354 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02486.hp1 HG02622.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002 | a0001c0001t0001g0017 a0001c0001t0004g0016 a0001c0001t0004g0018 others(6): Show |
9 | 336 | 0.0268 | -15 | c.100 others(32): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109656378 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(37): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0071 others(37): Show |
40 | 336 | 0.1191 | -15 | c.100 others(32): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
MCUB_chr4_109555246_109693719 | 109679787 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0067 others(1): Show |
4 | 336 | 0.0119 | -15 | c.452 others(32): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72751341 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044 a0001c0001t0004g0175 |
2 | 210 | 0.0095 | -15 | c.150 others(34): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MDFIC_chr7_114917094_115024917 | 114964525 | ACTTCCCT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0050 | a0001c0001t0037g0041 a0001c0001t0050g0061 |
2 | 334 | 0.0060 | -15 | c.218 others(34): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37626617 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0001t0014a0001c0001t0042others(12): Show | a0001c0001t0010g0381 a0001c0001t0014g0090 a0001c0001t0042g0153 others(15): Show |
18 | 402 | 0.0448 | -15 | c.*10 others(28): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 4061 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37658739 | AGCGGGCG others(8): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0079 | 1 | 402 | 0.0025 | -15 | c.208 others(30): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 2/16 | chr6 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47155885 | CTTCTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 120 | 0.0083 | -15 | c.596 others(34): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47161927 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0072 a0001c0001t0002g0056 a0001c0001t0003g0070 others(15): Show |
18 | 120 | 0.1500 | -15 | c.596 others(34): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47537574 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 120 | 0.0083 | -15 | c.280 others(36): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47563578 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0080 a0001c0001t0007g0023 a0001c0001t0008g0013 others(1): Show |
4 | 120 | 0.0333 | -15 | c.280 others(36): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47675310 | AGAGGAGG others(8): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp1 others(113): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 others(113): Show |
116 | 120 | 0.9667 | -15 | c.-52 others(24): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/17 | 515 | chr14 | TogoVar | ||||||
MDM1_chr12_68289566_68337362 | 68328659 | CCAATTAG others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 2 | 402 | 0.0050 | -15 | c.134 others(32): Show |
MDM1 | ENSG00000111554.15 | transcript | ENST00000682720.1 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670162 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 HG03704.hp1 others(1): Show |
a0005 | a0005c0004a0005c0061 | a0005c0004t0002a0005c0061t0002 | a0005c0004t0002g0135 a0005c0004t0002g0136 a0005c0004t0002g0228 others(1): Show |
4 | 290 | 0.0138 | -15 | c.139 others(34): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89746608 | AAAAAAAG others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(72): Show |
a0001a0003a0007others(12): Show | a0001c0001a0001c0007a0001c0049others(17): Show | a0001c0001t0001a0001c0001t0011a0001c0007t0001others(19): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0124 others(72): Show |
75 | 290 | 0.2586 | -15 | c.390 others(32): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 27/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89809784 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02257.hp1 others(14): Show |
a0002a0025a0046 | a0002c0002a0002c0011a0002c0027others(3): Show | a0002c0002t0001a0002c0011t0001a0002c0027t0001others(3): Show | a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0055 others(14): Show |
17 | 290 | 0.0586 | -15 | c.103 others(32): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 1/101 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83252264 | TTGTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG01243.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0003g0229 a0001c0001t0003g0236 others(36): Show |
39 | 272 | 0.1434 | -15 | c.814 others(32): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83263745 | CAACATAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0062 a0001c0001t0001g0118 a0001c0001t0001g0196 others(12): Show |
15 | 272 | 0.0552 | -15 | c.705 others(34): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83298931 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(24): Show |
27 | 272 | 0.0993 | -15 | c.704 others(34): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME2_chr18_50874118_50959257 | 50941353 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0314 | 1 | 342 | 0.0029 | -15 | c.158 others(32): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86521398 | AACAAACA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 320 | 0.0031 | -15 | c.468 others(34): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 4/14 | chr11 | TogoVar | |||||||
ME3_chr11_86436108_86677616 | 86661831 | AGTATTGT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0061 a0001c0001t0001g0181 a0001c0001t0001g0191 others(89): Show |
92 | 320 | 0.2875 | -15 | c.183 others(32): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
MEAF6_chr1_37484993_37519766 | 37495689 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0284 | 1 | 428 | 0.0023 | -15 | c.567 others(30): Show |
MEAF6 | ENSG00000163875.16 | transcript | ENST00000296214.10 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169160585 | ATGTACAA others(8): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0156 | 1 | 160 | 0.0063 | -15 | c.376 others(34): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169265884 | TACTGTGC others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0091 | 1 | 160 | 0.0063 | -15 | c.375 others(36): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378503 | AAGAAAGA others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02451.hp2 HG03130.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(6): Show | a0001c0001t0004g0072 a0001c0001t0006g0125 a0001c0001t0015g0014 others(6): Show |
9 | 160 | 0.0563 | -15 | c.375 others(32): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378507 | AAGAAAGA others(8): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG02080.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0004g0070 a0001c0001t0006g0116 a0001c0001t0007g0130 others(2): Show |
5 | 160 | 0.0313 | -15 | c.375 others(32): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169382859 | AAAAAATA others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02897.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0038 | a0001c0001t0008g0114 a0001c0001t0014g0146 a0001c0001t0038g0091 |
3 | 160 | 0.0188 | -15 | c.38- others(30): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169472665 | AAGGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0054 | 1 | 160 | 0.0063 | -15 | c.38- others(32): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECP2_chrX_154016573_154102717 | 154017812 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0081 | 1 | 230 | 0.0044 | -15 | c.*12 others(28): Show |
MECP2 | ENSG00000169057.25 | transcript | ENST00000303391.11 | protein_coding | 3760 | chrX | TogoVar | |||||||
MECP2_chrX_154016573_154102717 | 154050763 | GCTGAGGG others(8): Show |
G | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0219 | 1 | 230 | 0.0044 | -15 | c.27- others(32): Show |
MECP2 | ENSG00000169057.25 | transcript | ENST00000303391.11 | protein_coding | 2/3 | chrX | TogoVar | |||||||
MED10_chr5_6366874_6383547 | 6378917 | CTCCTTTC others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 420 | 0.0024 | -15 | c.-44 others(24): Show |
MED10 | ENSG00000133398.4 | transcript | ENST00000255764.4 | protein_coding | 371 | chr5 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151081299 | CTCCCTTC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01081.hp2 others(18): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0002g0241 others(18): Show |
21 | 280 | 0.0750 | -15 | c.-47 others(26): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4364 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151081410 | CCCCTCCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp2 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0013a0002c0025t0020 | a0001c0001t0013g0121 a0002c0025t0020g0150 |
2 | 280 | 0.0071 | -15 | c.-46 others(26): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4253 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151115327 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02895.hp2 NA21309.hp1 |
a0001 | a0001c0007a0001c0023 | a0001c0007t0007a0001c0023t0002 | a0001c0007t0007g0128 a0001c0023t0002g0027 |
2 | 280 | 0.0071 | -15 | c.100 others(30): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151152085 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0009a0001c0004t0002a0001c0004t0021others(2): Show | a0001c0001t0009g0134 a0001c0004t0002g0138 a0001c0004t0021g0136 others(5): Show |
8 | 280 | 0.0286 | -15 | c.557 others(32): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151261685 | GTGTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(135): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(58): Show | a0001c0001t0002g0200 a0001c0001t0002g0230 a0001c0001t0003g0223 others(135): Show |
138 | 280 | 0.4929 | -15 | c.225 others(36): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151299356 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001a0003 | a0001c0002a0001c0007a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0027a0001c0007t0009others(5): Show | a0001c0002t0001g0108 a0001c0002t0027g0178 a0001c0007t0009g0035 others(6): Show |
9 | 280 | 0.0321 | -15 | c.225 others(36): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368586 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03130.hp1 NA18970.hp1 others(2): Show |
a0001a0004 | a0001c0002a0001c0008a0001c0009others(1): Show | a0001c0002t0001a0001c0008t0001a0001c0008t0017others(2): Show | a0001c0002t0001g0065 a0001c0008t0001g0016 a0001c0008t0017g0011 others(2): Show |
5 | 280 | 0.0179 | -15 | c.355 others(32): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368624 | TATTTTAT others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02148.hp1 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0002t0017others(1): Show | a0001c0001t0002g0087 a0001c0001t0002g0158 a0001c0001t0002g0212 others(3): Show |
6 | 280 | 0.0214 | -15 | c.355 others(32): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368629 | TATTTCAT others(8): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0008 | a0001c0008t0048 | a0001c0008t0048g0009 | 1 | 280 | 0.0036 | -15 | c.355 others(32): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151439621 | ATAAATTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0029 | a0006c0029t0034 | a0006c0029t0034g0261 | 1 | 280 | 0.0036 | -15 | c.*68 others(26): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2969 | chr3 | TogoVar | |||||||
MED12_chrX_71113596_71147450 | 71132767 | CCTCTTCT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0094 others(4): Show |
9 | 273 | 0.0330 | -15 | c.441 others(30): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 31/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar |