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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPTF_chr17_67820503_67989378 | 67870766 | C | CTTT | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02071.hp2 others(11): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 others(11): Show |
14 | 274 | 0.0511 | 3 | c.166 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67883316 | A | AAAT | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp2 HG02896.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0005a0002c0002t0002 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0002c0002t0002g0253 |
3 | 274 | 0.0110 | 3 | c.186 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67916765 | C | CAAA | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0086 others(4): Show |
7 | 274 | 0.0256 | 3 | c.530 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67919173 | A | AAAT | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG02015.hp2 others(17): Show |
a0001a0025 | a0001c0001a0001c0014a0025c0023 | a0001c0001t0001a0001c0014t0001a0025c0023t0001 | a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 others(17): Show |
20 | 274 | 0.0730 | 3 | c.542 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67919218 | T | TAAA | intron_variant | MODIFIER | HG01978.hp2 HG02148.hp1 NA18906.hp1 others(1): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0040 | a0001c0001t0001a0001c0003t0003a0010c0040t0001 | a0001c0001t0001g0114 a0001c0003t0003g0092 a0001c0003t0003g0093 others(1): Show |
4 | 274 | 0.0146 | 3 | c.542 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01256.hp1 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0045a0002c0002others(2): Show | a0001c0001t0001a0001c0045t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0152 a0001c0045t0002g0007 a0002c0002t0002g0185 others(16): Show |
19 | 274 | 0.0693 | 3 | c.625 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67944924 | A | AGTG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(231): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0014a0001c0019others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(39): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(231): Show |
234 | 274 | 0.8540 | 3 | c.670 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 20/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67952054 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(38): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0029a0002c0002others(8): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0066 others(38): Show |
41 | 274 | 0.1496 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67955277 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0005a0003c0004t0004 | a0001c0005t0005g0099 a0001c0005t0005g0265 a0001c0005t0005g0266 others(3): Show |
6 | 274 | 0.0219 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67956318 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(24): Show |
a0001a0023 | a0001c0001a0001c0020a0023c0024 | a0001c0001t0001a0001c0020t0001a0023c0024t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(24): Show |
27 | 274 | 0.0985 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67976695 | A | AAAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(109): Show |
a0001a0006a0008others(6): Show | a0001c0001a0001c0014a0001c0019others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(109): Show |
112 | 274 | 0.4088 | 3 | c.872 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140727180 | T | TTTC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(107): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0116 others(107): Show |
110 | 190 | 0.5790 | 3 | c.240 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140770527 | C | CAAA | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02145.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(23): Show |
26 | 190 | 0.1368 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140772268 | T | TAAC | intron_variant | MODIFIER | HG02683.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 a0001c0001t0002g0100 |
2 | 190 | 0.0105 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140772272 | T | TACA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01175.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0147 others(24): Show |
27 | 190 | 0.1421 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140906087 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG02109.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 others(18): Show |
21 | 190 | 0.1105 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140909809 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00673.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0013a0001c0001t0016others(3): Show | a0001c0001t0007g0003 a0001c0001t0013g0002 a0001c0001t0016g0151 others(10): Show |
13 | 190 | 0.0684 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140909842 | C | CAAA | intron_variant | MODIFIER | HG00609.hp1 HG03239.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0090 a0001c0003t0002g0096 a0001c0003t0002g0097 |
3 | 190 | 0.0158 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140913469 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG02897.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0001g0145 a0001c0002t0001g0010 a0001c0002t0001g0029 others(6): Show |
9 | 190 | 0.0474 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140727180 | T | TTTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(111): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 others(111): Show |
114 | 196 | 0.5816 | 3 | c.*74 others(14): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3484 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140770527 | C | CAAA | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0009 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(10): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 others(23): Show |
26 | 196 | 0.1327 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140772268 | T | TAAC | intron_variant | MODIFIER | HG02683.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0104 |
2 | 196 | 0.0102 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140772272 | T | TACA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01175.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 others(26): Show |
29 | 196 | 0.1480 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140906087 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG02109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(5): Show | a0001c0001t0002g0094 a0001c0001t0003g0116 a0001c0001t0003g0117 others(18): Show |
21 | 196 | 0.1071 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140909809 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0031a0001c0002t0001others(6): Show | a0001c0001t0013g0002 a0001c0001t0013g0003 a0001c0001t0031g0156 others(11): Show |
14 | 196 | 0.0714 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140909842 | C | CAAA | intron_variant | MODIFIER | HG00609.hp2 HG03239.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0093 a0001c0003t0002g0100 a0001c0003t0002g0101 |
3 | 196 | 0.0153 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140913469 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG02897.hp2 HG03486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0001a0001c0002t0007others(2): Show | a0001c0001t0052g0150 a0001c0002t0001g0030 a0001c0002t0001g0059 others(6): Show |
9 | 196 | 0.0459 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111641759 | C | CTTT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0062 others(3): Show |
7 | 364 | 0.0192 | 3 | c.*24 others(14): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 386 | chr12 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111651218 | A | ATAT | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 others(5): Show |
8 | 364 | 0.0220 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111651225 | T | TTAA | intron_variant | MODIFIER | HG02622.hp1 HG02897.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 others(2): Show |
5 | 364 | 0.0137 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111651635 | C | CTTT | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0231 others(4): Show |
7 | 364 | 0.0192 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545496 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp2 others(70): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0013others(7): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0007g0382 a0001c0002t0001g0002 a0001c0002t0001g0008 others(60): Show |
73 | 424 | 0.1722 | 3 | c.283 others(18): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552107 | T | TATA | intron_variant | MODIFIER | HG02818.hp2 HG06807.hp1 NA18953.hp1 others(2): Show |
a0001a0018 | a0001c0001a0001c0003a0018c0032 | a0001c0001t0001a0001c0003t0001a0018c0032t0001 | a0001c0001t0001g0238 a0001c0001t0001g0265 a0001c0001t0001g0295 others(2): Show |
5 | 424 | 0.0118 | 3 | c.127 others(20): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2556079 | T | TAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0002 | a0001c0002t0001g0012 a0001c0002t0001g0112 a0003c0005t0002g0007 others(8): Show |
12 | 424 | 0.0283 | 3 | c.-61 others(12): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 556 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43058019 | C | CAAA | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02895.hp2 others(3): Show |
a0003a0006a0015others(1): Show | a0003c0003a0006c0009a0006c0031others(2): Show | a0003c0003t0003a0006c0009t0005a0006c0031t0005others(2): Show | a0003c0003t0003g0128 a0006c0009t0005g0273 a0006c0009t0005g0274 others(3): Show |
6 | 276 | 0.0217 | 3 | c.519 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43059469 | C | CACA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(19): Show | a0001c0001t0001g0107 a0001c0001t0001g0168 a0001c0001t0001g0169 others(74): Show |
77 | 276 | 0.2790 | 3 | c.519 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43067836 | A | ATTT | intron_variant | MODIFIER | HG01975.hp2 HG02615.hp1 HG02895.hp1 others(5): Show |
a0001a0006a0016 | a0001c0001a0001c0024a0006c0009others(2): Show | a0001c0001t0001a0001c0024t0001a0006c0009t0005others(2): Show | a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0233 others(5): Show |
8 | 276 | 0.0290 | 3 | c.498 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43067890 | T | TAAA | intron_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0006others(1): Show | a0001c0001t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0001c0001t0001g0104 a0003c0003t0002g0120 a0003c0003t0004g0119 others(4): Show |
7 | 276 | 0.0254 | 3 | c.498 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43095105 | A | ACCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0024a0001c0028others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(16): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(123): Show |
126 | 276 | 0.4565 | 3 | c.671 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100632 | T | TACA | intron_variant | MODIFIER | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
a0001a0021 | a0001c0001a0021c0026 | a0001c0001t0001a0021c0026t0001 | a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0188 others(3): Show |
6 | 276 | 0.0217 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100632 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(14): Show |
a0001a0004a0009others(3): Show | a0001c0001a0004c0004a0009c0027others(3): Show | a0001c0001t0001a0004c0004t0001a0009c0027t0001others(3): Show | a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0184 others(14): Show |
17 | 276 | 0.0616 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100658 | A | ATGT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(23): Show |
a0001a0009a0014others(2): Show | a0001c0001a0009c0027a0014c0032others(2): Show | a0001c0001t0001a0009c0027t0001a0014c0032t0001others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 others(23): Show |
26 | 276 | 0.0942 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100690 | T | TAAC | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
a0006 | a0006c0009a0006c0031 | a0006c0009t0005a0006c0031t0005 | a0006c0009t0005g0273 a0006c0009t0005g0274 a0006c0031t0005g0275 |
3 | 276 | 0.0109 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43107062 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01109.hp1 others(6): Show |
a0001a0004a0025 | a0001c0001a0004c0004a0025c0029 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0213 others(6): Show |
9 | 276 | 0.0326 | 3 | c.135 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43108706 | C | CAAA | intron_variant | MODIFIER | NA18944.hp1 NA18947.hp2 NA18960.hp2 others(5): Show |
a0001a0022a0025others(1): Show | a0001c0001a0022c0025a0025c0029others(1): Show | a0001c0001t0001a0022c0025t0001a0025c0029t0001others(1): Show | a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0182 others(5): Show |
8 | 276 | 0.0290 | 3 | c.135 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43121683 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0024a0001c0028others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0169 others(79): Show |
82 | 276 | 0.2971 | 3 | c.80+ others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43125988 | G | GTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0024a0001c0028others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(14): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(112): Show |
115 | 276 | 0.4167 | 3 | c.-74 others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 625 | chr17 | TogoVar | |||||||
BRCA2_chr13_32310508_32405268 | 32342270 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(43): Show |
a0003a0006a0032 | a0003c0005a0003c0023a0003c0052others(2): Show | a0003c0005t0003a0003c0005t0007a0003c0005t0010others(7): Show | a0003c0005t0003g0008 a0003c0005t0003g0022 a0003c0005t0003g0028 others(40): Show |
46 | 398 | 0.1156 | 3 | c.684 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32365109 | C | CTTT | intron_variant | MODIFIER | HG02698.hp1 HG02818.hp1 HG03540.hp1 others(6): Show |
a0003a0033 | a0003c0005a0003c0023a0033c0043 | a0003c0005t0003a0003c0005t0007a0003c0005t0033others(2): Show | a0003c0005t0003g0040 a0003c0005t0003g0044 a0003c0005t0003g0048 others(5): Show |
9 | 398 | 0.0226 | 3 | c.833 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32388666 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(69): Show |
a0001a0002a0008others(6): Show | a0001c0004a0001c0010a0002c0002others(8): Show | a0001c0004t0005a0001c0004t0040a0001c0010t0011others(16): Show | a0001c0004t0005g0111 a0001c0004t0040g0108 a0001c0010t0011g0014 others(63): Show |
72 | 398 | 0.1809 | 3 | c.925 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |