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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRCA2_chr13_32310508_32405268 | 32395960 | C | CTTT | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02293.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0004t0005others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0259 a0001c0001t0008g0056 others(3): Show |
6 | 398 | 0.0151 | 3 | c.950 others(20): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCC3_chrX_155066508_155128077 | 155075309 | C | CCAT | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 254 | 0.0039 | 3 | c.196 others(20): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 3/10 | chrX | TogoVar | |||||||
BRCC3_chrX_155066508_155128077 | 155111741 | G | GAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0116 a0001c0001t0001g0120 others(74): Show |
109 | 254 | 0.4291 | 3 | c.549 others(20): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49809541 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00673.hp2 others(21): Show |
a0001a0006a0007 | a0001c0001a0006c0014a0007c0012 | a0001c0001t0001a0001c0001t0002a0006c0014t0001others(1): Show | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(21): Show |
24 | 258 | 0.0930 | 3 | c.136 others(22): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
BRD2_chr6_32963594_32986501 | 32968123 | A | AGTC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01168.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0026others(4): Show | a0001c0003t0002a0001c0003t0019a0001c0004t0002others(10): Show | a0001c0003t0002g0053 a0001c0003t0002g0089 a0001c0003t0019g0034 others(20): Show |
62 | 469 | 0.1322 | 3 | c.-22 others(14): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 470 | chr6 | TogoVar | |||||||
BRD3_chr9_134025305_134073026 | 134039845 | G | GAGC | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0045a0001c0005t0010a0001c0005t0023others(6): Show | a0001c0002t0045g0076 a0001c0005t0010g0026 a0001c0005t0010g0092 others(13): Show |
18 | 334 | 0.0539 | 3 | c.164 others(20): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 9/11 | chr9 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15237245 | T | TGGG | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0039others(14): Show | a0001c0001t0005g0059 a0001c0001t0005g0072 a0001c0001t0005g0080 others(24): Show |
27 | 208 | 0.1298 | 3 | c.*11 others(14): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 20/20 | 1131 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15309338 | C | CAAA | intron_variant | MODIFIER | HG01934.hp2 HG02145.hp2 HG02523.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0004a0004c0032others(1): Show | a0001c0002t0011a0001c0002t0069a0002c0004t0003others(2): Show | a0001c0002t0011g0173 a0001c0002t0069g0172 a0002c0004t0003g0193 others(2): Show |
5 | 208 | 0.0240 | 3 | c.-35 others(22): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15323178 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0062 others(35): Show |
38 | 208 | 0.1827 | 3 | c.-35 others(20): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15327918 | T | TGGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0062 others(40): Show |
43 | 208 | 0.2067 | 3 | c.-35 others(20): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15331872 | T | TTCC | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00733.hp1 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 others(43): Show |
46 | 208 | 0.2212 | 3 | c.-35 others(18): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15332501 | A | AGCC | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp2 others(100): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(48): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 others(100): Show |
103 | 208 | 0.4952 | 3 | c.-24 others(12): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/20 | 59403 | chr19 | TogoVar | ||||||
BRD7_chr16_50310957_50373988 | 50313417 | A | AAAC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0004g0150 |
3 | 402 | 0.0075 | 3 | c.*57 others(14): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 2539 | chr16 | TogoVar | |||||||
BRD7_chr16_50310957_50373988 | 50341642 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(141): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0009a0006c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(122): Show |
144 | 402 | 0.3582 | 3 | c.592 others(20): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 5/16 | chr16 | TogoVar | |||||||
BRD7_chr16_50310957_50373988 | 50342455 | C | CTTT | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02027.hp2 others(29): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0176 others(29): Show |
32 | 402 | 0.0796 | 3 | c.592 others(20): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 5/16 | chr16 | TogoVar | |||||||
BRD8_chr5_138134770_138183630 | 138167091 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(82): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0140 a0001c0002t0001g0003 a0001c0002t0001g0004 others(78): Show |
85 | 378 | 0.2249 | 3 | c.788 others(18): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 9/26 | chr5 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91950684 | C | CCTT | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02630.hp2 others(5): Show |
a0001a0019 | a0001c0001a0019c0007 | a0001c0001t0003a0019c0007t0003 | a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 others(5): Show |
8 | 318 | 0.0252 | 3 | c.-38 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91950684 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(110): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0006a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
113 | 318 | 0.3554 | 3 | c.-38 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91952777 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0006a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 others(123): Show |
133 | 318 | 0.4182 | 3 | c.-38 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91953941 | G | GTAA | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02647.hp1 others(4): Show |
a0002 | a0002c0002a0002c0023 | a0002c0002t0002a0002c0023t0002 | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(4): Show |
7 | 318 | 0.0220 | 3 | c.-38 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91958214 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(34): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0143 a0001c0001t0001g0231 a0001c0001t0001g0232 others(33): Show |
37 | 318 | 0.1164 | 3 | c.-37 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91969823 | G | GTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 others(9): Show |
12 | 318 | 0.0377 | 3 | c.445 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91978997 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(16): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0138 others(13): Show |
19 | 318 | 0.0598 | 3 | c.109 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91979008 | A | AAAC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0195 a0001c0001t0001g0282 others(3): Show |
6 | 318 | 0.0189 | 3 | c.109 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91979011 | A | AAAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001a0013a0015 | a0001c0001a0001c0006a0013c0012others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0137 others(90): Show |
98 | 318 | 0.3082 | 3 | c.109 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91985638 | C | CTTT | intron_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02615.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0002g0016 a0002c0002t0002g0004 a0002c0002t0002g0057 others(8): Show |
12 | 318 | 0.0377 | 3 | c.200 others(22): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91991852 | C | CGTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0006a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(169): Show |
181 | 318 | 0.5692 | 3 | c.206 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 13/18 | chr1 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 92009545 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG02559.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0009a0003c0003t0001others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0274 a0001c0001t0001g0278 others(6): Show |
9 | 318 | 0.0283 | 3 | c.277 others(22): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 92010267 | A | ATTT | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01261.hp2 others(14): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0009 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0235 others(14): Show |
17 | 318 | 0.0535 | 3 | c.277 others(22): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105243285 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(7): Show |
10 | 72 | 0.1389 | 3 | c.545 others(20): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105244506 | T | TGGA | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show |
8 | 72 | 0.1111 | 3 | c.545 others(20): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | |||||||
BRF2_chr8_37838268_37854861 | 37847926 | C | CTTT | intron_variant | MODIFIER | HG02040.hp1 HG02056.hp1 HG02698.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0034 others(2): Show |
26 | 380 | 0.0684 | 3 | c.214 others(18): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
BRF2_chr8_37838268_37854861 | 37847928 | T | TTTA | intron_variant | MODIFIER | HG01346.hp2 HG02145.hp1 HG02165.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 others(4): Show |
33 | 380 | 0.0868 | 3 | c.214 others(18): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
BRF2_chr8_37838268_37854861 | 37854040 | C | CTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(18): Show |
139 | 380 | 0.3658 | 3 | c.-42 others(14): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 4180 | chr8 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124991694 | T | TTTA | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0044a0001c0001t0065others(1): Show | a0001c0001t0010g0401 a0001c0001t0010g0402 a0001c0001t0044g0403 others(2): Show |
5 | 410 | 0.0122 | 3 | c.-20 others(14): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1950 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124992024 | A | ATTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0095 others(49): Show |
52 | 410 | 0.1268 | 3 | c.-17 others(14): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1620 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124993835 | C | CCTG | disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(183): Show |
a0002a0006a0008others(1): Show | a0002c0002a0002c0013a0002c0015others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(51): Show | a0002c0002t0001g0027 a0002c0002t0001g0135 a0002c0002t0001g0136 others(183): Show |
186 | 410 | 0.4537 | 3 | c.72_ others(8): Show |
p.Leu others(5): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/3 | 221/6703 | 75/756 | 25/251 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
BRI3BP_chr12_124988645_125036231 | 124993846 | T | TGCC | disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG02056.hp2 HG02165.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0003a0004c0004t0012 | a0004c0004t0002g0172 a0004c0004t0002g0174 a0004c0004t0002g0180 others(3): Show |
6 | 410 | 0.0146 | 3 | c.58_ others(8): Show |
p.Leu others(14): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/3 | 205/6703 | 59/756 | 20/251 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
BRI3BP_chr12_124988645_125036231 | 125000016 | C | CTTT | intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 HG02109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0315 a0001c0001t0001g0317 others(19): Show |
23 | 410 | 0.0561 | 3 | c.213 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125008106 | A | ATGC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(100): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 others(100): Show |
103 | 410 | 0.2512 | 3 | c.214 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125009620 | G | GGGC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0212 a0001c0001t0002g0014 a0001c0001t0004g0063 others(61): Show |
64 | 410 | 0.1561 | 3 | c.214 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125016825 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG02818.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0014a0001c0001t0053a0001c0001t0076others(3): Show | a0001c0001t0014g0066 a0001c0001t0014g0309 a0001c0001t0053g0310 others(6): Show |
9 | 410 | 0.0220 | 3 | c.316 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125031574 | A | ATTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0014 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(12): Show | a0001c0001t0002g0134 a0001c0001t0002g0265 a0001c0001t0010g0402 others(15): Show |
18 | 410 | 0.0439 | 3 | c.*61 others(14): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 344 | chr12 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98279459 | C | CTGT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0132 |
6 | 414 | 0.0145 | 3 | c.-23 others(14): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 2226 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98279459 | C | CTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(22): Show |
87 | 414 | 0.2101 | 3 | c.-23 others(14): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 2226 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119214587 | T | TAAA | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 others(10): Show |
13 | 236 | 0.0551 | 3 | c.686 others(18): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119218746 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0132 others(18): Show |
21 | 236 | 0.0890 | 3 | c.686 others(20): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119249877 | A | AGGG | intron_variant | MODIFIER | HG02809.hp1 HG03098.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0009 | a0001c0003t0001a0001c0005t0001a0001c0009t0001 | a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0005t0001g0192 others(1): Show |
4 | 236 | 0.0170 | 3 | c.219 others(18): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119263601 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(91): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 others(91): Show |
94 | 236 | 0.3983 | 3 | c.219 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119338716 | C | CAAA | intron_variant | MODIFIER | HG01123.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0002a0001c0006t0001 | a0001c0003t0001g0022 a0001c0003t0002g0230 a0001c0006t0001g0017 others(3): Show |
6 | 236 | 0.0254 | 3 | c.-50 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar |