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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL11A_chr2_60452194_60558654 | 60477600 | T | TGAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01074.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0001g0039others(27): Show | 30 | 262 | 0.1145 | 5 | c.386 others(22): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507316 | G | GGGGAA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0054a0001c0001t0001g0055others(25): Show | 28 | 262 | 0.1069 | 5 | c.386 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60516988 | T | TATTTA | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0001t0016a0001c0001t0037others(2): Show | a0001c0001t0013g0253a0001c0001t0016g0254a0001c0001t0037g0068others(2): Show | 5 | 262 | 0.0191 | 5 | c.385 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TGTGTG | intron_variant | MODIFIER | HG02056.hp2 HG03704.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0022others(1): Show | a0001c0001t0005g0228a0001c0001t0008g0132a0001c0001t0022g0179others(1): Show | 4 | 262 | 0.0153 | 5 | c.385 others(22): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAGAGG | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01169.hp1 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(12): Show | a0001c0001t0003g0145a0001c0001t0003g0146a0001c0001t0003g0147others(47): Show | 51 | 262 | 0.1947 | 5 | c.-24 others(14): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | |||||
BCL11B_chr14_99164287_99277197 | 99218232 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0210a0001c0001t0001g0228a0001c0001t0001g0240others(17): Show | 20 | 350 | 0.0571 | 5 | c.640 others(24): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646716 | C | CTTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0021 | a0001c0001t0003g0051a0001c0001t0003g0107a0001c0001t0007g0012others(3): Show | 6 | 306 | 0.0196 | 5 | c.-51 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17656335 | C | CTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01496.hp2 HG01981.hp1 others(10): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(1): Show | a0001c0001t0003g0021a0001c0001t0003g0036a0001c0001t0003g0044others(10): Show | 13 | 306 | 0.0425 | 5 | c.121 others(20): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0196a0001c0001t0002g0210a0001c0001t0002g0212others(12): Show | 15 | 306 | 0.0490 | 5 | c.229 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17693372 | G | GGTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG02647.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0043 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0025others(12): Show | 15 | 306 | 0.0490 | 5 | c.387 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17695049 | G | GGTTCC | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01168.hp2 others(43): Show |
a0001a0007a0008 | a0001c0001a0001c0007a0007c0013others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(6): Show | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0022others(43): Show | 46 | 306 | 0.1503 | 5 | c.387 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17728099 | A | AGGCTG | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0009a0001c0001t0020a0001c0001t0060others(2): Show | a0001c0001t0009g0032a0001c0001t0009g0033a0001c0001t0009g0038others(8): Show | 11 | 306 | 0.0360 | 5 | c.*56 others(14): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 7/7 | 570 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
BCL2L1_chr20_31659458_31727868 | 31661752 | C | CGGGCG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0071others(10): Show | 13 | 186 | 0.0699 | 5 | c.*41 others(16): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2705 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31691520 | A | AAAAAT | intron_variant | MODIFIER | HG01256.hp2 HG01934.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0113a0001c0001t0001g0162others(2): Show | 5 | 186 | 0.0269 | 5 | c.565 others(24): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31709840 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(2): Show | 5 | 186 | 0.0269 | 5 | c.564 others(24): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63133319 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01361.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0198a0001c0001t0001g0207a0001c0001t0001g0227others(21): Show | 24 | 264 | 0.0909 | 5 | c.586 others(22): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63156087 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0119a0001c0001t0001g0129a0001c0001t0001g0159others(38): Show | 41 | 264 | 0.1553 | 5 | c.586 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63165768 | G | GACCTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0117others(115): Show | 118 | 264 | 0.4470 | 5 | c.586 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63254383 | T | TAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01175.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0136a0001c0001t0001g0220a0001c0001t0002g0003others(24): Show | 27 | 264 | 0.1023 | 5 | c.585 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44755922 | C | CAAATA | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0131a0001c0005t0003g0129a0001c0005t0003g0140 | 3 | 344 | 0.0087 | 5 | c.411 others(20): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCL3_chr19_44743708_44765044 | 44764415 | C | CTTGTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00621.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(22): Show | 27 | 344 | 0.0785 | 5 | c.*48 others(16): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4372 | chr19 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187737752 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01952.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0051a0001c0001t0002g0080a0001c0001t0002g0081others(5): Show | 8 | 404 | 0.0198 | 5 | c.-49 others(22): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122046060 | T | TAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0088a0001c0001t0001g0262a0001c0001t0001g0356others(4): Show | 7 | 362 | 0.0193 | 5 | c.439 others(22): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7B_chr7_73531356_73562690 | 73540829 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0047a0001c0001t0001g0048others(5): Show | 10 | 284 | 0.0352 | 5 | c.266 others(20): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147608330 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0257a0001c0001t0003g0159a0001c0001t0008g0213others(7): Show | 10 | 316 | 0.0317 | 5 | c.-26 others(24): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCLAF1_chr6_136251627_136294846 | 136278994 | A | ACACAC | intron_variant | MODIFIER | NA18954.hp2 NA18990.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0152a0001c0001t0001g0191a0001c0001t0024g0159 | 3 | 310 | 0.0097 | 5 | c.105 others(20): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19993760 | A | AAGACG | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 207 | 0.0048 | 5 | c.-28 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 2700 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995642 | A | AAAGAT | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0089 | 1 | 207 | 0.0048 | 5 | c.-47 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4582 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81284819 | G | GTTTTC | intron_variant | MODIFIER | NA18988.hp2 NA18990.hp2 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0184 | 4 | 402 | 0.0100 | 5 | c.120 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81292236 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(335): Show | 346 | 402 | 0.8607 | 5 | c.*16 others(16): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1095 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81295391 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0164others(103): Show | 109 | 402 | 0.2711 | 5 | c.*48 others(16): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 4250 | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112176517 | C | CGGGGG | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01081.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0083others(37): Show | 42 | 380 | 0.1105 | 5 | c.88+ others(18): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112181180 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(64): Show |
a0001a0010a0016 | a0001c0001a0010c0023a0016c0014 | a0001c0001t0001a0001c0001t0006a0010c0023t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0020others(63): Show | 67 | 380 | 0.1763 | 5 | c.293 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112182841 | T | TTAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(282): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0007a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(267): Show | 285 | 380 | 0.7500 | 5 | c.293 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112182842 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(77): Show |
a0001a0010a0016 | a0001c0001a0010c0023a0016c0014 | a0001c0001t0001a0001c0001t0006a0010c0023t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0020others(76): Show | 80 | 380 | 0.2105 | 5 | c.293 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112196915 | T | TCCTTC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00639.hp2 others(51): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0014others(48): Show | 54 | 380 | 0.1421 | 5 | c.736 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129982126 | A | AAAGAG | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0203 | 1 | 203 | 0.0049 | 5 | c.-68 others(14): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 508 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 129982907 | T | TCTCCC | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 203 | 0.0049 | 5 | c.-45 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129989444 | C | CTTTTT | intron_variant | MODIFIER | HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0058a0001c0001t0007g0059 | 2 | 203 | 0.0099 | 5 | c.-45 others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130003374 | C | CTTCTT | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0004a0001c0002t0002g0033a0001c0002t0002g0092others(6): Show | 9 | 203 | 0.0443 | 5 | c.-44 others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130004241 | G | GTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0006a0001c0005t0006 | a0001c0002t0002g0004a0001c0002t0002g0092a0001c0002t0002g0155others(4): Show | 7 | 203 | 0.0345 | 5 | c.-44 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130004249 | T | TTTTTG | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0009 | a0001c0009t0015 | a0001c0009t0015g0082 | 1 | 203 | 0.0049 | 5 | c.-44 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130011571 | G | GACTTT | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 203 | 0.0049 | 5 | c.87- others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130022236 | C | CTTTCT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0006a0001c0005t0009 | a0001c0002t0002g0032a0001c0002t0006g0031a0001c0005t0009g0191 | 3 | 203 | 0.0148 | 5 | c.360 others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043782 | A | ATTTTT | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0185 | 1 | 203 | 0.0049 | 5 | c.484 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATA | intron_variant | MODIFIER | HG03098.hp1 HG03492.hp1 HG03579.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0027a0001c0001t0001g0075a0001c0001t0001g0128others(4): Show | 7 | 203 | 0.0345 | 5 | c.484 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130062823 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 203 | 0.0049 | 5 | c.*66 others(16): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 4753 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40062821 | T | TGTATG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 5 | c.409 others(14): Show |
p.Lys others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 9/15 | 4881/6910 | 4097/5268 | 1366/1755 | chrX | TogoVar | ||
BCOR_chrX_40046251_40102958 | 40090453 | A | AGGGGC | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 257 | 0.0039 | 5 | c.-41 others(22): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40090553 | G | GCTCCA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 3 | 257 | 0.0117 | 5 | c.-41 others(22): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar |