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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPR1B_chr4_94752955_95163448 | 94955637 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0001g0116 a0001c0001t0001g0214 a0001c0001t0005g0022 others(8): Show |
11 | 96 | 0.1146 | 7 | c.-11 others(28): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202458283 | C | CAAAAAAA | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG01928.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0027 others(7): Show |
10 | 72 | 0.1389 | 7 | c.77- others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMS1_chr10_42777795_42839937 | 42839558 | T | TATCTGTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(215): Show |
a0001a0003a0004others(13): Show | a0001c0004a0001c0005a0001c0008others(22): Show | a0001c0004t0003a0001c0004t0011a0001c0004t0018others(36): Show | a0001c0004t0003g0007 a0001c0004t0003g0021 a0001c0004t0003g0026 others(160): Show |
218 | 386 | 0.5648 | 7 | c.*84 others(18): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 4622 | chr10 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112846145 | C | CTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02486.hp2 HG02723.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0181 a0001c0001t0002g0110 others(12): Show |
15 | 111 | 0.1351 | 7 | c.474 others(26): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
BNC1_chr15_83250884_83289664 | 83272394 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(10): Show |
31 | 194 | 0.1598 | 7 | c.100 others(24): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16412720 | G | GAGAGAGA | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0131 a0001c0001t0017g0149 |
2 | 11 | 0.1818 | 7 | c.*62 others(18): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 7/7 | 6268 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16465434 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG01884.hp2 others(11): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(8): Show | a0001c0001t0003g0046 a0001c0001t0007g0065 a0001c0001t0007g0086 others(11): Show |
14 | 61 | 0.2295 | 7 | c.670 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16506513 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02717.hp1 others(2): Show |
a0001a0009 | a0001c0001a0001c0020a0009c0014 | a0001c0001t0009a0001c0001t0063a0001c0001t0089others(2): Show | a0001c0001t0009g0021 a0001c0001t0063g0077 a0001c0001t0089g0038 others(2): Show |
5 | 51 | 0.0980 | 7 | c.669 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16665411 | A | AGAGAGAG | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0064a0003c0008t0100 | a0001c0001t0064g0012 a0003c0008t0100g0072 |
2 | 172 | 0.0116 | 7 | c.330 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16742539 | T | TTTGCTAG | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(11): Show | a0001c0001t0003g0082 a0001c0001t0009g0021 a0001c0001t0013g0040 others(13): Show |
16 | 174 | 0.0920 | 7 | c.4-4 others(20): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16779130 | A | AAAAAAAG | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01192.hp1 others(23): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0143 a0001c0001t0002g0169 a0001c0001t0005g0102 others(23): Show |
26 | 53 | 0.4906 | 7 | c.4-4 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173167082 | C | CTCAGATG | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0086 others(1): Show |
11 | 350 | 0.0314 | 7 | c.*31 others(18): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2696 | chr5 | TogoVar | |||||||
BNIP2_chr15_59654146_59694320 | 59658155 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG03516.hp1 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0038 | a0001c0001t0004g0003 a0001c0001t0004g0014 a0001c0001t0004g0041 others(3): Show |
9 | 10 | 0.9000 | 7 | c.*59 others(18): Show |
BNIP2 | ENSG00000140299.14 | transcript | ENST00000607373.6 | protein_coding | 990 | chr15 | TogoVar | |||||||
BNIP2_chr15_59654146_59694320 | 59690670 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02723.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0038a0001c0001t0045others(3): Show | a0001c0001t0013g0049 a0001c0001t0038g0073 a0001c0001t0045g0133 others(9): Show |
13 | 227 | 0.0573 | 7 | c.-15 others(18): Show |
BNIP2 | ENSG00000140299.14 | transcript | ENST00000607373.6 | protein_coding | 1351 | chr15 | TogoVar | |||||||
BNIP3_chr10_131962684_131986923 | 131982761 | G | GGGGCCTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0124 a0001c0001t0001g0138 others(19): Show |
62 | 436 | 0.1422 | 7 | c.-95 others(16): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 839 | chr10 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGGTGTGT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03486.hp2 others(1): Show |
a0002a0010 | a0002c0004a0010c0028 | a0002c0004t0007a0010c0028t0007 | a0002c0004t0007g0323 a0002c0004t0007g0324 a0002c0004t0007g0325 others(1): Show |
4 | 76 | 0.0526 | 7 | c.-81 others(26): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13581590 | C | CAGAAGTG | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(41): Show |
a0001a0003a0005others(8): Show | a0001c0001a0003c0003a0003c0035others(9): Show | a0001c0001t0002a0001c0001t0009a0003c0003t0001others(10): Show | a0001c0001t0002g0095 a0001c0001t0009g0065 a0003c0003t0001g0001 others(25): Show |
44 | 256 | 0.1719 | 7 | c.859 others(24): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 19/25 | chr4 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241565726 | C | CGTGGGGG | intron_variant | MODIFIER | HG01516.hp2 HG02738.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0237 |
3 | 432 | 0.0069 | 7 | c.349 others(24): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BOLA2_chr16_29448593_29459351 | 29451065 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 129 | 0.0853 | 7 | c.*25 others(18): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2527 | chr16 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144273392 | T | TCCAGACC | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02895.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0034 a0001c0002t0001g0039 others(7): Show |
11 | 24 | 0.4583 | 7 | c.390 others(24): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144273392 | T | TCCAGGCC | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0140 others(14): Show |
17 | 30 | 0.5667 | 7 | c.390 others(24): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72734294 | T | TAAATAAA | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(2): Show |
7 | 386 | 0.0181 | 7 | c.261 others(22): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3/11 | chr13 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19174385 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01257.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0056 a0001c0001t0002g0008 a0001c0001t0005g0016 others(10): Show |
19 | 123 | 0.1545 | 7 | c.*31 others(18): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 2520 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177685 | G | GAAAAGAA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0004 a0001c0001t0003g0189 a0001c0001t0004g0057 |
5 | 362 | 0.0138 | 7 | c.*43 others(22): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134665649 | G | GAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0044 others(4): Show |
10 | 309 | 0.0324 | 7 | c.601 others(24): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33107257 | G | GAAGAGAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0060 a0001c0001t0001g0220 a0002c0002t0001g0079 others(31): Show |
42 | 342 | 0.1228 | 7 | c.174 others(24): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424529 | A | AAGGGTAT | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01243.hp2 others(29): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0003c0003t0002others(7): Show | a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0002g0157 others(28): Show |
32 | 420 | 0.0762 | 7 | c.121 others(26): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | C | CTTCTTCT | intron_variant | MODIFIER | HG00558.hp1 HG02976.hp1 NA18968.hp2 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0002c0002t0002a0007c0007t0002 | a0002c0002t0001g0108 a0002c0002t0002g0093 a0007c0007t0002g0178 |
3 | 251 | 0.0120 | 7 | c.121 others(26): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38328605 | A | AAATGAGG | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(106): Show |
a0003a0008a0010others(12): Show | a0003c0003a0008c0009a0008c0041others(19): Show | a0003c0003t0001a0003c0003t0002a0008c0009t0001others(25): Show | a0003c0003t0001g0004 a0003c0003t0001g0011 a0003c0003t0001g0012 others(88): Show |
109 | 423 | 0.2577 | 7 | c.122 others(24): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(39): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0011others(13): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0282 a0001c0001t0001g0298 others(37): Show |
42 | 88 | 0.4773 | 7 | c.*24 others(18): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56964469 | T | TTTTTGTA | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0094 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show |
5 | 354 | 0.0141 | 7 | c.809 others(22): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67976714 | A | AAAATAAG | intron_variant | MODIFIER | HG01109.hp2 HG02896.hp1 HG03139.hp2 others(4): Show |
a0001a0002a0006 | a0001c0003a0002c0002a0002c0006others(2): Show | a0001c0003t0002a0002c0002t0002a0002c0006t0002others(2): Show | a0001c0003t0002g0088 a0002c0002t0002g0236 a0002c0006t0002g0010 others(4): Show |
7 | 98 | 0.0714 | 7 | c.872 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2533376 | A | ATATTTTT | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02145.hp1 HG02451.hp1 others(4): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0010t0004others(3): Show | a0001c0001t0001g0018 a0001c0002t0003g0035 a0001c0010t0004g0285 others(3): Show |
7 | 210 | 0.0333 | 7 | c.*46 others(18): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2544200 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0117 a0001c0002t0001g0032 a0001c0002t0001g0077 others(35): Show |
64 | 190 | 0.3368 | 7 | c.431 others(22): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545363 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG01257.hp2 others(19): Show |
a0001a0002a0003 | a0001c0002a0002c0004a0003c0005 | a0001c0002t0001a0001c0002t0003a0002c0004t0001others(1): Show | a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0272 others(13): Show |
22 | 204 | 0.1078 | 7 | c.283 others(22): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552107 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp1 HG02809.hp2 HG02965.hp2 others(4): Show |
a0001a0015 | a0001c0003a0001c0012a0015c0030 | a0001c0003t0001a0001c0012t0001a0015c0030t0001 | a0001c0003t0001g0007 a0001c0003t0001g0201 a0001c0003t0001g0202 others(3): Show |
7 | 345 | 0.0203 | 7 | c.127 others(24): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100644 | A | ATATATAC | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0002g0209 |
3 | 263 | 0.0114 | 7 | c.442 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43102357 | C | CTTTTTTT | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 NA18522.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0009a0006c0026 | a0001c0001t0001a0006c0009t0005a0006c0026t0005 | a0001c0001t0001g0177 a0001c0001t0001g0229 a0006c0009t0005g0272 others(2): Show |
5 | 96 | 0.0521 | 7 | c.441 others(24): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRD3OS_chr9_134020481_134036587 | 134024430 | A | ACTCCTGG | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0029others(1): Show | a0001c0001t0007g0001 a0001c0001t0015g0004 a0001c0001t0029g0001 others(1): Show |
14 | 332 | 0.0422 | 7 | c.-18 others(18): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 1050 | chr9 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91987648 | G | GTTTTTGT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(52): Show |
a0001a0013 | a0001c0001a0001c0011a0013c0010 | a0001c0001t0001a0001c0011t0001a0013c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0146 others(48): Show |
55 | 313 | 0.1757 | 7 | c.200 others(26): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATATAT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01261.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 others(10): Show |
41 | 171 | 0.2398 | 7 | c.-15 others(18): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119294853 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(51): Show |
54 | 196 | 0.2755 | 7 | c.218 others(26): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119297836 | A | ATAATAAT | intron_variant | MODIFIER | HG02622.hp2 HG03017.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0171 a0001c0003t0001g0211 a0001c0005t0001g0208 |
3 | 174 | 0.0172 | 7 | c.218 others(26): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190163597 | T | TGAAGCAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(58): Show |
61 | 238 | 0.2563 | 7 | c.962 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190165443 | G | GTTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02523.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 others(3): Show |
6 | 147 | 0.0408 | 7 | c.962 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190444239 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show |
5 | 22 | 0.2273 | 7 | c.236 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0053 others(15): Show |
18 | 36 | 0.5000 | 7 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190479673 | G | GGCTATTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(127): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(127): Show |
130 | 238 | 0.5462 | 7 | c.-22 others(18): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1810 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61680480 | C | CTTTCTTT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01433.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0025a0001c0001t0036a0002c0003t0005others(7): Show | a0001c0001t0025g0067 a0001c0001t0025g0106 a0001c0001t0036g0142 others(25): Show |
28 | 69 | 0.4058 | 7 | c.*28 others(18): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 20/20 | 2815 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61791488 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp1 others(118): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0052 a0001c0001t0002g0004 a0001c0001t0002g0046 others(118): Show |
121 | 174 | 0.6954 | 7 | c.147 others(26): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar |