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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNIPL_chr1_151031586_151052720 | 151036180 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02486.hp2 HG02723.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(7): Show |
14 | 33 | 0.4242 | -5 | c.-54 others(14): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 405 | chr1 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260667 | TAGAAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0021 others(54): Show |
59 | 340 | 0.1735 | -5 | c.377 others(22): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241560874 | ACAGCT | A | intron_variant | MODIFIER | HG01168.hp2 HG01258.hp1 HG01516.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003a0002c0003t0026 | a0001c0001t0003g0035 a0001c0001t0003g0169 a0001c0001t0003g0170 others(2): Show |
6 | 432 | 0.0139 | -5 | c.220 others(22): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BOLA2B_chr16_30187932_30198666 | 30190402 | ATATAT | A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02559.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 245 | 0.0122 | -5 | c.*25 others(16): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2529 | chr16 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29450742 | CAAAAA | C | downstream_gene_variant | MODIFIER | NA18995.hp2 NA19055.hp2 NA19067.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 126 | 0.0397 | -5 | c.*28 others(16): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2850 | chr16 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29451060 | TTATAA | T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 173 | 0.0231 | -5 | c.*25 others(16): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2532 | chr16 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29451065 | ATATAT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01943.hp1 HG02015.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 41 | 159 | 0.2579 | -5 | c.*25 others(16): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2527 | chr16 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144284118 | AAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(7): Show |
10 | 389 | 0.0257 | -5 | c.309 others(22): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72729778 | CAAAAT | C | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(2): Show |
7 | 385 | 0.0182 | -5 | c.153 others(20): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72731660 | TAAGAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(143): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(63): Show |
146 | 386 | 0.3782 | -5 | c.260 others(20): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72753868 | TATAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0156 |
3 | 386 | 0.0078 | -5 | c.161 others(20): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BORCS6_chr17_8183345_8195180 | 8193292 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01496.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 18 | 128 | 0.1406 | -5 | c.-31 others(16): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 3113 | chr17 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177687 | AGGAAG | A | intron_variant | MODIFIER | HG00673.hp2 HG01993.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0127 |
5 | 426 | 0.0117 | -5 | c.*43 others(20): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177696 | GAGAAA | G | intron_variant | MODIFIER | HG02895.hp2 NA18959.hp2 NA18983.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show |
9 | 236 | 0.0381 | -5 | c.*43 others(20): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19191974 | GCAGTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0051 others(8): Show |
13 | 426 | 0.0305 | -5 | c.37+ others(18): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134665865 | ATTTTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(148): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(82): Show |
151 | 359 | 0.4206 | -5 | c.601 others(22): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134680360 | TTAAAG | T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01081.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 others(23): Show |
37 | 360 | 0.1028 | -5 | c.*13 others(16): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 545 | chr7 | TogoVar | |||||||
BPHL_chr6_3113711_3158578 | 3133232 | ACTCTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01167.hp2 others(49): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0056 a0001c0001t0001g0107 a0001c0001t0002g0040 others(38): Show |
52 | 348 | 0.1494 | -5 | c.532 others(22): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33240687 | ATAAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0004 a0001c0002t0003g0072 a0001c0002t0003g0100 others(1): Show |
14 | 380 | 0.0368 | -5 | c.581 others(20): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33082323 | GTTTAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(124): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0009others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0060 a0002c0002t0001g0003 a0002c0002t0001g0005 others(95): Show |
127 | 342 | 0.3713 | -5 | c.107 others(20): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33107275 | GGAAAA | G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0211 a0001c0001t0001g0212 others(2): Show |
11 | 342 | 0.0322 | -5 | c.174 others(22): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32419803 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01928.hp1 others(17): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0008others(1): Show | a0001c0001t0002a0004c0004t0002a0008c0008t0002others(2): Show | a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0002g0157 others(17): Show |
20 | 77 | 0.2597 | -5 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424602 | TCCTCC | T | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 NA18522.hp1 others(1): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0001a0003c0003t0002a0008c0008t0001 | a0003c0003t0001g0308 a0003c0003t0002g0387 a0008c0008t0001g0183 others(1): Show |
4 | 310 | 0.0129 | -5 | c.121 others(24): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424630 | CTTCTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG02559.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0182 a0001c0001t0001g0280 a0001c0001t0001g0376 others(3): Show |
6 | 389 | 0.0154 | -5 | c.121 others(24): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67881491 | GTTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(17): Show |
a0001a0010a0011 | a0001c0001a0010c0017a0011c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(17): Show |
20 | 140 | 0.1429 | -5 | c.186 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67897341 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0009 | a0001c0005a0009c0023 | a0001c0005t0005a0009c0023t0005 | a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 others(4): Show |
7 | 157 | 0.0446 | -5 | c.254 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67923471 | CTTTTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001a0005a0009 | a0001c0005a0005c0008a0009c0023 | a0001c0005t0005a0005c0008t0002a0009c0023t0005 | a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0266 others(4): Show |
7 | 60 | 0.1167 | -5 | c.570 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67940063 | TATTAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(102): Show |
a0001a0002a0004others(5): Show | a0001c0032a0002c0002a0002c0006others(9): Show | a0001c0032t0002a0002c0002t0002a0002c0002t0007others(10): Show | a0001c0032t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0016 others(102): Show |
105 | 272 | 0.3860 | -5 | c.626 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140802085 | TATATG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 others(18): Show |
21 | 188 | 0.1117 | -5 | c.712 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 5/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140802085 | TATATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0034others(4): Show | a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 others(18): Show |
21 | 194 | 0.1082 | -5 | c.712 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111671549 | CCAAAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0226 others(5): Show |
8 | 362 | 0.0221 | -5 | c.747 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2533376 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02055.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0001a0001c0015t0001 | a0001c0002t0001g0004 a0001c0002t0001g0104 a0001c0002t0001g0108 others(1): Show |
6 | 209 | 0.0287 | -5 | c.*46 others(16): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2559765 | TGGGGG | T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(74): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0212 others(56): Show |
77 | 121 | 0.6364 | -5 | c.-43 others(16): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4242 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43046222 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0011 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(9): Show |
13 | 152 | 0.0855 | -5 | c.546 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43074719 | GGGGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0022a0001c0024others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(8): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | 274 | 0.4015 | -5 | c.448 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100615 | TATAAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG03704.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0108 a0001c0001t0001g0246 a0007c0008t0001g0265 |
3 | 274 | 0.0109 | -5 | c.442 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100652 | TATAAC | T | intron_variant | MODIFIER | HG03669.hp1 NA18959.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0215 a0001c0001t0001g0242 |
3 | 274 | 0.0109 | -5 | c.442 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43112738 | TGAAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0022a0001c0024others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(19): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | 274 | 0.5876 | -5 | c.134 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43113362 | ATTTTC | A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
a0003a0014 | a0003c0003a0003c0018a0014c0021 | a0003c0003t0002a0003c0003t0004a0003c0003t0006others(2): Show | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(35): Show |
38 | 274 | 0.1387 | -5 | c.134 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43124747 | TTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show |
6 | 272 | 0.0221 | -5 | c.-20 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
BRCA2_chr13_32310508_32405268 | 32333478 | ATATCT | A | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 HG03139.hp2 others(3): Show |
a0001a0029 | a0001c0004a0029c0032 | a0001c0004t0012a0029c0032t0012 | a0001c0004t0012g0082 a0001c0004t0012g0084 a0001c0004t0012g0085 others(3): Show |
6 | 396 | 0.0152 | -5 | c.190 others(20): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32365109 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(85): Show |
a0001a0004a0007others(6): Show | a0001c0001a0004c0019a0007c0008others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(81): Show |
88 | 104 | 0.8462 | -5 | c.833 others(24): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32376115 | GTGAAA | G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0290 others(1): Show |
4 | 396 | 0.0101 | -5 | c.863 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRD2_chr6_32963594_32986501 | 32979040 | GTGTTT | G | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG02683.hp2 others(12): Show |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0001a0003c0012t0001 | a0001c0002t0001g0007 a0001c0002t0001g0075 a0001c0002t0001g0076 others(2): Show |
15 | 468 | 0.0321 | -5 | c.184 others(22): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134051877 | GTTGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(22): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0016 others(68): Show |
89 | 322 | 0.2764 | -5 | c.352 others(20): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15278105 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01081.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0062 others(32): Show |
35 | 52 | 0.6731 | -5 | c.-34 others(22): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD7_chr16_50310957_50373988 | 50368304 | AAAAAG | A | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0023a0001c0002t0002a0002c0003t0008others(1): Show | a0001c0001t0023g0256 a0001c0002t0002g0341 a0002c0003t0008g0030 others(4): Show |
8 | 400 | 0.0200 | -5 | c.50- others(15): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
BRD8_chr5_138134770_138183630 | 138148363 | CTCTTT | C | intron_variant | MODIFIER | HG02976.hp2 HG03579.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 |
3 | 376 | 0.0080 | -5 | c.327 others(24): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 23/26 | chr5 | TogoVar | |||||||
BRD9_chr5_858741_897801 | 880978 | AGGTCG | A | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0133 others(1): Show |
5 | 362 | 0.0138 | -5 | c.104 others(22): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 9/15 | chr5 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91963763 | TCTTAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0124 others(5): Show |
8 | 316 | 0.0253 | -5 | c.192 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |