regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | a0001c0001t0001g0223a0001c0001t0001g0259a0001c0001t0008g0056others(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 | a0001c0001t0001g0030a0001c0001t0001g0116a0001c0001t0001g0120others(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 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0002a0007c0011t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0165others(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 | a0001c0003a0001c0004a0001c0024others(4): Show | a0001c0003t0002a0001c0003t0019a0001c0004t0002others(10): Show | a0001c0003t0002g0053a0001c0003t0002g0089a0001c0003t0019g0034others(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 | a0001c0002t0045g0076a0001c0005t0010g0026a0001c0005t0010g0092others(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 | a0001c0001a0001c0004a0001c0012others(8): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0039others(14): Show | a0001c0001t0005g0059a0001c0001t0005g0072a0001c0001t0005g0080others(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 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0026 | a0001c0002t0011a0001c0002t0013a0001c0002t0069others(2): Show | a0001c0002t0011g0173a0001c0002t0013g0189a0001c0002t0069g0172others(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 | a0001c0001a0002c0003a0003c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0001g0062others(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(4): Show | a0001c0001a0001c0002a0001c0035others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0062others(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(3): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0118a0001c0001t0002g0119a0001c0001t0002g0121others(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(7): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0035others(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 | a0001c0001t0003g0146a0001c0001t0003g0149a0001c0001t0004g0150 | 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 |
a0001a0007a0011 | a0001c0001a0007c0008a0011c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(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 |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0003g0157a0001c0001t0003g0163a0001c0001t0003g0176others(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 |
a0001a0005a0009others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0140a0001c0002t0001g0003a0001c0002t0001g0004others(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 |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0003a0010c0007t0003 | a0001c0001t0003g0007a0001c0001t0003g0009a0001c0001t0003g0010others(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(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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(4): Show | a0001c0001a0001c0006a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0035others(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 | a0002c0002a0002c0021 | a0002c0002t0002a0002c0021t0002 | a0002c0002t0002g0048a0002c0002t0002g0049a0002c0002t0002g0050others(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 | a0001c0001t0001g0143a0001c0001t0001g0231a0001c0001t0001g0232others(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 | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0018others(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 | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0001g0138others(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 | a0001c0001t0001g0035a0001c0001t0001g0195a0001c0001t0001g0282others(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 |
a0001a0008 | a0001c0001a0001c0006a0008c0010 | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0137others(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 | a0001c0001t0002g0016a0002c0002t0002g0004a0002c0002t0002g0057others(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(4): Show | a0001c0001a0001c0006a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0033a0001c0001t0001g0274a0001c0001t0001g0278others(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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0178a0001c0001t0001g0194a0001c0001t0001g0235others(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 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(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 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(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 | a0001c0001t0001g0004a0001c0001t0001g0028a0001c0001t0001g0034others(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 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0016others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(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 | a0001c0001t0010g0401a0001c0001t0010g0402a0001c0001t0044g0403others(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 | a0001c0001t0001g0004a0001c0001t0001g0062a0001c0001t0001g0095others(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 |
a0002 | a0002c0002a0002c0008a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(51): Show | a0002c0002t0001g0027a0002c0002t0001g0135a0002c0002t0001g0136others(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 | a0004c0004t0002g0172a0004c0004t0002g0174a0004c0004t0002g0180others(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 | a0001c0001t0001g0004a0001c0001t0001g0315a0001c0001t0001g0317others(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 |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0022others(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 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0212a0001c0001t0002g0014a0001c0001t0004g0063others(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 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0014a0001c0001t0053a0001c0001t0076others(3): Show | a0001c0001t0014g0066a0001c0001t0014g0309a0001c0001t0053g0310others(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 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(12): Show | a0001c0001t0002g0134a0001c0001t0002g0265a0001c0001t0010g0402others(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 | a0001c0001t0001g0031a0001c0001t0001g0049a0001c0001t0001g0132 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(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 | a0001c0002t0001g0202a0001c0002t0001g0203a0001c0002t0001g0205others(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 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0132others(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 | a0001c0003t0001g0189a0001c0003t0001g0197a0001c0005t0001g0192others(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 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0039others(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 | a0001c0003t0001g0022a0001c0003t0002g0230a0001c0006t0001g0017others(3): Show | 6 | 236 | 0.0254 | 3 | c.-50 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar |