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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOX_chr8_58800412_59124147 | 58873958 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01106.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0076 others(22): Show |
25 | 70 | 0.3571 | -7 | c.412 others(26): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59037801 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0153 others(10): Show |
13 | 104 | 0.1250 | -7 | c.103 others(26): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59046858 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01891.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0084 others(20): Show |
23 | 53 | 0.4340 | -7 | c.102 others(26): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59049088 | TTTGGCCC | T | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0039 others(48): Show |
51 | 222 | 0.2297 | -7 | c.102 others(26): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TP53BP1_chr15_43398061_43498156 | 43438728 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 others(13): Show |
17 | 114 | 0.1491 | -7 | c.309 others(24): Show |
TP53BP1 | ENSG00000067369.14 | transcript | ENST00000382044.9 | protein_coding | 15/27 | chr15 | TogoVar | |||||||
TP53BP1_chr15_43398061_43498156 | 43471191 | CTAAAATA | C | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp2 HG02970.hp2 others(6): Show |
a0001a0016 | a0001c0001a0016c0036 | a0001c0001t0002a0001c0001t0005a0016c0036t0005 | a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0005g0133 others(6): Show |
9 | 300 | 0.0300 | -7 | c.118 others(26): Show |
TP53BP1 | ENSG00000067369.14 | transcript | ENST00000382044.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
TP53BP2_chr1_223774893_223850947 | 223791438 | AAAATTGT | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01106.hp1 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(35): Show |
42 | 378 | 0.1111 | -7 | c.299 others(24): Show |
TP53BP2 | ENSG00000143514.18 | transcript | ENST00000343537.12 | protein_coding | 15/17 | chr1 | TogoVar | |||||||
TP53BP2_chr1_223774893_223850947 | 223837609 | GTAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00733.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(114): Show |
127 | 378 | 0.3360 | -7 | c.27+ others(22): Show |
TP53BP2 | ENSG00000143514.18 | transcript | ENST00000343537.12 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
TP53I3_chr2_24072433_24089834 | 24075352 | TCTTTCTG | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0002others(2): Show | a0001c0001t0002g0003 a0001c0002t0003g0004 a0001c0002t0003g0012 others(6): Show |
34 | 343 | 0.0991 | -7 | c.*22 others(18): Show |
TP53I3 | ENSG00000115129.14 | transcript | ENST00000238721.9 | protein_coding | 2080 | chr2 | TogoVar | |||||||
TP63_chr3_189626389_189902276 | 189689098 | CTTTTTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(60): Show |
63 | 115 | 0.5478 | -7 | c.63- others(24): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189694790 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0127 others(18): Show |
21 | 25 | 0.8400 | -7 | c.63- others(24): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189722603 | CGCACAGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(150): Show |
153 | 310 | 0.4935 | -7 | c.63- others(24): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189777839 | CTTCTTCT | C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01168.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0048 others(20): Show |
23 | 310 | 0.0742 | -7 | c.325 others(26): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189809080 | TATTTATA | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0004g0161 |
3 | 310 | 0.0097 | -7 | c.579 others(22): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189840356 | CGTCTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01243.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 others(34): Show |
37 | 304 | 0.1217 | -7 | c.580 others(26): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
TP63_chr3_189784659_189902276 | 189809080 | TATTTATA | T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0004g0095 |
3 | 396 | 0.0076 | -7 | c.297 others(22): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000354600.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP63_chr3_189784659_189902276 | 189840356 | CGTCTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01243.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0064 a0001c0001t0001g0126 a0001c0001t0001g0156 others(43): Show |
46 | 390 | 0.1179 | -7 | c.298 others(26): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000354600.10 | protein_coding | 2/11 | chr3 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3702466 | ACCCCAGC | A | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0080 a0001c0001t0002g0200 a0001c0001t0010g0079 others(11): Show |
14 | 353 | 0.0397 | -7 | c.187 others(24): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3707812 | AGGGCTGC | A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 a0001c0001t0002g0323 a0001c0001t0002g0329 |
3 | 356 | 0.0084 | -7 | c.429 others(20): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3712929 | GCCCCTGC | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0286 a0001c0001t0002g0051 a0001c0001t0002g0052 others(69): Show |
72 | 356 | 0.2022 | -7 | c.429 others(24): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPD52L1_chr6_125148773_125269407 | 125158396 | ATACATTC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(177): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 others(177): Show |
180 | 318 | 0.5660 | -7 | c.19+ others(22): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TPD52L1_chr6_125148773_125269407 | 125231627 | GTTGTTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0008g0267 |
3 | 318 | 0.0094 | -7 | c.284 others(24): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TPD52_chr8_80029745_80176564 | 80158943 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0147 a0001c0001t0001g0150 others(8): Show |
11 | 62 | 0.1774 | -7 | c.19+ others(24): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPD52_chr8_80029745_80176564 | 80160889 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0007g0104 others(3): Show |
6 | 23 | 0.2609 | -7 | c.19+ others(24): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18038206 | ATATAACT | A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0051 | a0001c0001t0006g0047 a0001c0001t0007g0044 a0001c0001t0007g0045 others(6): Show |
12 | 396 | 0.0303 | -7 | c.118 others(24): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 2/10 | chr11 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144609095 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 others(12): Show |
15 | 70 | 0.2143 | -7 | c.354 others(26): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144713075 | CTCTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024 a0001c0001t0001g0080 a0001c0001t0001g0081 others(2): Show |
5 | 115 | 0.0435 | -7 | c.116 others(26): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144716872 | TATATATA | T | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0107 a0001c0001t0006g0056 |
2 | 114 | 0.0175 | -7 | c.116 others(26): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
TPM3_chr1_154156813_154197100 | 154181416 | GAAAGAAC | G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0311 a0001c0001t0022g0169 a0001c0001t0022g0170 others(1): Show |
4 | 370 | 0.0108 | -7 | c.244 others(24): Show |
TPM3 | ENSG00000143549.22 | transcript | ENST00000651641.1 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
TPM4_chr19_16071495_16108002 | 16096936 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00639.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 others(29): Show |
39 | 48 | 0.8125 | -7 | c.664 others(24): Show |
TPM4 | ENSG00000167460.17 | transcript | ENST00000643579.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1486795 | TAGTGGGG | T | intron_variant | MODIFIER | HG00741.hp1 HG02015.hp1 HG03239.hp2 others(2): Show |
a0007a0019 | a0007c0009a0007c0013a0019c0017 | a0007c0009t0003a0007c0009t0006a0007c0013t0007others(2): Show | a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 others(2): Show |
5 | 128 | 0.0391 | -7 | c.159 others(26): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1533656 | GCACCCCC | G | intron_variant | MODIFIER | HG02040.hp1 NA18962.hp1 |
a0002a0007 | a0002c0002a0007c0013 | a0002c0002t0009a0007c0013t0012 | a0002c0002t0009g0062 a0007c0013t0012g0066 |
2 | 127 | 0.0157 | -7 | c.261 others(26): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1543942 | GGGAGCCA | G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00673.hp1 others(6): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0003a0010c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0037 others(6): Show |
9 | 128 | 0.0703 | -7 | c.*14 others(18): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 270 | chr2 | TogoVar | |||||||
TPP2_chr13_102591986_102684958 | 102624851 | CCTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0020 others(152): Show |
173 | 354 | 0.4887 | -7 | c.784 others(24): Show |
TPP2 | ENSG00000134900.13 | transcript | ENST00000376052.5 | protein_coding | 6/29 | chr13 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 670078 | AGTCCCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0214 a0001c0001t0003g0002 a0001c0001t0003g0019 others(90): Show |
106 | 408 | 0.2598 | -7 | c.312 others(24): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 688599 | TGTGCCAG | T | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0007a0001c0009t0008others(1): Show | a0001c0009t0004g0048 a0001c0009t0007g0051 a0001c0009t0008g0050 others(1): Show |
4 | 408 | 0.0098 | -7 | c.-5+ others(22): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 694761 | GCGGAGCC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01123.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0028a0001c0001t0037a0001c0002t0029others(4): Show | a0001c0001t0028g0010 a0001c0001t0037g0045 a0001c0002t0029g0033 others(15): Show |
25 | 408 | 0.0613 | -7 | c.-14 others(18): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1410 | chr5 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186327072 | TATATATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02486.hp1 others(14): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0053 a0001c0004t0001g0277 a0001c0004t0003g0017 others(8): Show |
17 | 403 | 0.0422 | -7 | c.588 others(24): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TPSB2_chr16_1223336_1235184 | 1233759 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001a0005a0006 | a0001c0006a0005c0005a0006c0011 | a0001c0006t0005a0005c0005t0005a0006c0011t0006 | a0001c0006t0005g0009 a0005c0005t0005g0058 a0006c0011t0006g0014 |
7 | 22 | 0.3182 | -7 | c.-36 others(18): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 3576 | chr16 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66212451 | CTTTTCTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(134): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(134): Show |
137 | 344 | 0.3983 | -7 | c.-10 others(26): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66246179 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02148.hp2 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(9): Show |
12 | 28 | 0.4286 | -7 | c.845 others(24): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66254002 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 NA18951.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | 205 | 0.0488 | -7 | c.845 others(26): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66296257 | CTCCCCCA | C | intron_variant | MODIFIER | HG00621.hp2 HG02083.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 others(6): Show |
9 | 341 | 0.0264 | -7 | c.104 others(26): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66324800 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(144): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(144): Show |
147 | 149 | 0.9866 | -7 | c.104 others(28): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST2_chr22_26516996_26595132 | 26519016 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(26): Show | a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0016 others(122): Show |
129 | 264 | 0.4886 | -7 | c.*72 others(18): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 2979 | chr22 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19440956 | AGGCACTT | A | intron_variant | MODIFIER | HG00735.hp1 HG02559.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(1): Show |
4 | 220 | 0.0182 | -7 | c.974 others(24): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19445940 | CAAAACAA | C | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 |
3 | 220 | 0.0136 | -7 | c.973 others(24): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19546483 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(7): Show |
10 | 88 | 0.1136 | -7 | c.-44 others(24): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19555803 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(86): Show |
89 | 169 | 0.5266 | -7 | c.-14 others(26): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 2/22 | chr13 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10575339 | TCTATGGA | T | intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 2 | 208 | 0.0096 | -7 | c.796 others(24): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |