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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNIP5_chr6_36310761_36341888 | 36324571 | GATATTAT others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02074.hp2 NA18939.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0010a0002c0002t0001g0128a0002c0002t0001g0150others(3): Show | 8 | 424 | 0.0189 | -15 | c.116 others(32): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36324576 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 424 | 0.0024 | -15 | c.116 others(32): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BNIPL_chr1_151031586_151052720 | 151036180 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011a0001c0001t0001g0107a0001c0001t0001g0108others(1): Show | 4 | 362 | 0.0111 | -15 | c.-54 others(24): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 405 | chr1 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260667 | TAGAACAG others(8): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0289a0001c0001t0016g0290 | 2 | 386 | 0.0052 | -15 | c.377 others(32): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260716 | ACAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 NA20805.hp2 others(1): Show |
a0001 | a0001c0003a0001c0029 | a0001c0003t0003a0001c0003t0014a0001c0029t0003 | a0001c0003t0003g0322a0001c0003t0014g0271a0001c0003t0014g0272others(1): Show | 4 | 386 | 0.0104 | -15 | c.377 others(32): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241575095 | ATGACTGT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 434 | 0.0023 | -15 | c.*26 others(26): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 965 | chr2 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241577822 | CAGCAGGA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 434 | 0.0023 | -15 | c.*54 others(26): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 3692 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197784393 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 328 | 0.0031 | -15 | c.-16 others(30): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197784434 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249a0001c0001t0001g0250 | 2 | 328 | 0.0061 | -15 | c.-16 others(30): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144275861 | ACCATGAC others(8): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 398 | 0.0025 | -15 | c.390 others(30): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144277789 | AGGGCAGG others(8): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02698.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0076a0001c0001t0001g0190a0001c0001t0001g0300others(8): Show | 12 | 398 | 0.0302 | -15 | c.310 others(32): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177685 | GAAGGAAG others(8): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 428 | 0.0023 | -15 | c.*43 others(30): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177689 | GAAGGAAG others(8): Show |
G | intron_variant | MODIFIER | NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0267a0001c0001t0006g0198 | 2 | 428 | 0.0047 | -15 | c.*43 others(30): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGTG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01243.hp2 HG01261.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(10): Show | 17 | 362 | 0.0470 | -15 | c.*34 others(26): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33023823 | CACATCTC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03139.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0069a0002c0003t0002g0045a0002c0003t0002g0100 | 3 | 388 | 0.0077 | -15 | c.*44 others(24): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 121 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424678 | TTCTTCTT others(8): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0217 | 1 | 422 | 0.0024 | -15 | c.121 others(34): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424690 | TTCCTCTT others(8): Show |
T | intron_variant | MODIFIER | HG01074.hp1 NA18945.hp2 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0226a0001c0001t0001g0377others(2): Show | 5 | 422 | 0.0119 | -15 | c.121 others(34): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424741 | CTCTTCTT others(8): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0189 | 1 | 422 | 0.0024 | -15 | c.121 others(34): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32462176 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0023a0003c0003t0001g0024a0003c0003t0002g0022others(1): Show | 4 | 422 | 0.0095 | -15 | c.-88 others(30): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 1/16 | chr22 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38302460 | CAATAATA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG03041.hp2 others(2): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0006others(1): Show | a0002c0002t0001a0004c0004t0002a0005c0006t0001others(1): Show | a0002c0002t0001g0066a0004c0004t0002g0304a0005c0006t0001g0291others(2): Show | 5 | 426 | 0.0117 | -15 | c.-17 others(26): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67919173 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 |
a0002 | a0002c0002a0002c0027 | a0002c0002t0002a0002c0027t0002 | a0002c0002t0002g0188a0002c0027t0002g0198 | 2 | 274 | 0.0073 | -15 | c.542 others(32): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67953961 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01099.hp2 others(24): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0009t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0029others(24): Show | 27 | 274 | 0.0985 | -15 | c.792 others(34): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAF_chr7_140714337_140929929 | 140732170 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01123.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0174a0001c0001t0004g0159a0001c0001t0004g0165others(14): Show | 17 | 190 | 0.0895 | -15 | c.240 others(34): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140732170 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01123.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0043others(2): Show | a0001c0001t0004g0167a0001c0001t0004g0168a0001c0001t0004g0170others(14): Show | 17 | 196 | 0.0867 | -15 | c.*24 others(26): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 18/18 | 2412 | chr7 | TogoVar | |||||
BRCA2_chr13_32310508_32405268 | 32368001 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0278a0001c0001t0008g0349a0001c0001t0008g0363 | 3 | 398 | 0.0075 | -15 | c.833 others(34): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRD3_chr9_134025305_134073026 | 134051871 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0032 | 1 | 334 | 0.0030 | -15 | c.352 others(30): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134053962 | ACTCGTTG others(8): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02630.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0037a0001c0002t0039 | a0001c0002t0019g0028a0001c0002t0019g0226a0001c0002t0037g0227others(1): Show | 5 | 334 | 0.0150 | -15 | c.-11 others(32): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15292777 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03688.hp1 NA20752.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0014 | a0001c0002t0013g0185a0001c0002t0014g0180a0001c0002t0014g0184 | 3 | 208 | 0.0144 | -15 | c.-34 others(34): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15298620 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0032 | a0001c0032t0008 | a0001c0032t0008g0202 | 1 | 208 | 0.0048 | -15 | c.-34 others(34): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD8_chr5_138134770_138183630 | 138173342 | GAGCCGAG others(8): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 378 | 0.0027 | -15 | c.117 others(32): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91962227 | TATTTGTA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0018 | a0014c0018t0011 | a0014c0018t0011g0036 | 1 | 318 | 0.0031 | -15 | c.-37 others(30): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 91991991 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0008t0002a0002c0002t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(12): Show | 15 | 318 | 0.0472 | -15 | c.206 others(32): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 124997632 | ATATTTCT others(8): Show |
A | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 410 | 0.0024 | -15 | c.213 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119280842 | TTTATTTA others(8): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 236 | 0.0042 | -15 | c.219 others(34): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177176512 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0234 | 1 | 252 | 0.0040 | -15 | c.-77 others(32): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP3_chr1_190092658_190482864 | 190269621 | GATAAAAC others(8): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 240 | 0.0042 | -15 | c.428 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405478 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0193 | 2 | 240 | 0.0083 | -15 | c.236 others(34): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0116a0001c0001t0001g0165a0001c0001t0008g0166 | 3 | 240 | 0.0125 | -15 | c.236 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772155 | GATTATAT others(8): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0061 | 1 | 266 | 0.0038 | -15 | c.209 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55308753 | GGGGGGCG others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03831.hp1 NA18998.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0011a0001c0002t0028 | a0001c0001t0006g0072a0001c0001t0011g0050a0001c0002t0028g0259 | 3 | 338 | 0.0089 | -15 | c.217 others(30): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK1_chr19_55278997_55317562 | 55308817 | GGGGGGCG others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp2 NA19009.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0284a0001c0002t0002g0153a0001c0002t0002g0222 | 3 | 338 | 0.0089 | -15 | c.217 others(31): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1446046 | AGCTGGGC others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(79): Show | 84 | 360 | 0.2333 | -15 | c.122 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454158 | GGGGGGGC others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0009a0001c0003t0004g0290 | 2 | 360 | 0.0056 | -15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217060 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 338 | 0.0030 | -15 | c.365 others(34): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217068 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0301 | 1 | 338 | 0.0030 | -15 | c.365 others(34): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02818.hp1 HG03098.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0004c0003t0025others(1): Show | a0001c0001t0002g0022a0001c0001t0002g0081a0001c0001t0003g0305others(2): Show | 5 | 338 | 0.0148 | -15 | c.248 others(34): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 338 | 0.0030 | -15 | c.235 others(32): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249910 | AGGGGGGT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 338 | 0.0030 | -15 | c.234 others(32): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80680332 | CACATAAT others(8): Show |
C | intron_variant | MODIFIER | NA18950.hp1 NA18975.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0121a0001c0001t0122a0001c0001t0127 | a0001c0001t0121g0181a0001c0001t0122g0182a0001c0001t0127g0189 | 3 | 265 | 0.0113 | -15 | c.465 others(33): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 40/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80751981 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 |
a0001 | a0001c0004 | a0001c0004t0103a0001c0004t0108 | a0001c0004t0103g0161a0001c0004t0108g0166 | 2 | 265 | 0.0076 | -15 | c.431 others(32): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar |