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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC3_chr11_102312484_102344403 | 102328875 | TATATA | T | intron_variant | MODIFIER | HG01346.hp2 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025a0001c0001t0026 | a0001c0001t0008g0037a0001c0001t0008g0048a0001c0001t0008g0050others(3): Show | 7 | 384 | 0.0182 | -5 | c.103 others(20): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78228171 | TAAATA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(47): Show | 165 | 432 | 0.3819 | -5 | c.*46 others(16): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 2537 | chr17 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32352376 | AGATGG | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0062a0002c0004t0002g0066a0002c0004t0002g0146others(1): Show | 4 | 274 | 0.0146 | -5 | c.-47 others(16): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4646 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369944 | AAATAT | A | intron_variant | MODIFIER | HG02135.hp1 HG03041.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0236a0001c0001t0003g0260others(3): Show | 6 | 274 | 0.0219 | -5 | c.326 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369946 | ATATAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0009a0002c0002a0002c0004others(1): Show | a0001c0009t0001a0002c0002t0002a0002c0004t0002others(1): Show | a0001c0009t0001g0026a0002c0002t0002g0076a0002c0002t0002g0077others(10): Show | 13 | 274 | 0.0475 | -5 | c.326 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32391569 | AAGAGT | A | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0002a0007 | a0002c0002a0007c0032 | a0002c0002t0003a0007c0032t0011 | a0002c0002t0003g0150a0007c0032t0011g0149 | 2 | 274 | 0.0073 | -5 | c.840 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32419638 | ATAAAG | A | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0007a0001c0018a0001c0031 | a0001c0007t0006a0001c0018t0005a0001c0031t0005 | a0001c0007t0006g0185a0001c0018t0005g0183a0001c0018t0005g0184others(1): Show | 4 | 274 | 0.0146 | -5 | c.287 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 10/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTT | C | intron_variant | MODIFIER | HG02083.hp2 HG03490.hp2 HG03688.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0130a0001c0003t0003g0037a0001c0003t0003g0102others(10): Show | 13 | 274 | 0.0475 | -5 | c.324 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32446738 | GTTTTT | G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0004a0001c0007t0007a0001c0030t0004 | a0001c0007t0004g0017a0001c0007t0004g0019a0001c0007t0004g0022others(2): Show | 5 | 274 | 0.0183 | -5 | c.448 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460980 | TTGCTC | T | intron_variant | MODIFIER | HG02965.hp2 NA19012.hp1 |
a0002a0011 | a0002c0002a0011c0028 | a0002c0002t0002a0011c0028t0002 | a0002c0002t0002g0122a0011c0028t0002g0179 | 2 | 274 | 0.0073 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460998 | CTCTCT | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01261.hp2 others(8): Show |
a0001a0002a0006 | a0001c0006a0001c0009a0001c0021others(3): Show | a0001c0006t0003a0001c0009t0001a0001c0021t0002others(3): Show | a0001c0006t0003g0006a0001c0009t0001g0025a0001c0009t0001g0026others(8): Show | 11 | 274 | 0.0402 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461062 | CTTCTG | C | intron_variant | MODIFIER | HG01106.hp1 HG02015.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0010t0002a0001c0013t0003others(4): Show | a0001c0001t0001g0224a0001c0010t0002g0051a0001c0013t0003g0152others(7): Show | 10 | 274 | 0.0365 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01071.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(8): Show | a0001c0001t0001g0100a0001c0001t0001g0107a0001c0001t0001g0186others(35): Show | 38 | 274 | 0.1387 | -5 | c.740 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01109.hp1 others(45): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0001t0001g0190a0001c0003t0002g0130a0001c0003t0003g0023others(45): Show | 48 | 274 | 0.1752 | -5 | c.998 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32516703 | ATAAAT | A | intron_variant | MODIFIER | NA18944.hp2 NA18947.hp1 NA18950.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100a0001c0001t0001g0103a0001c0001t0001g0214others(4): Show | 7 | 274 | 0.0256 | -5 | c.113 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 55/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0100a0001c0001t0001g0103others(32): Show | 35 | 274 | 0.1277 | -5 | c.131 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102796700 | ATATAT | A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0046a0001c0001t0003g0044others(2): Show | 5 | 404 | 0.0124 | -5 | c.-30 others(16): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2418 | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102836201 | CTTTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(130): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(95): Show | 133 | 404 | 0.3292 | -5 | c.112 others(24): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLID_chr11_122110340_122121215 | 122119746 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(178): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 181 | 434 | 0.4171 | -5 | c.-38 others(16): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3532 | chr11 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | GAAAGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0120others(138): Show | 145 | 308 | 0.4708 | -5 | c.-2+ others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11520476 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02486.hp1 others(7): Show |
a0001a0005 | a0001c0002a0001c0005a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0009others(3): Show | a0001c0002t0001g0151a0001c0002t0003g0262a0001c0005t0009g0119others(6): Show | 10 | 308 | 0.0325 | -5 | c.-1- others(22): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11541403 | CAAATT | C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0005a0001c0003t0007a0004c0009t0004 | a0001c0001t0005g0085a0001c0003t0007g0028a0004c0009t0004g0083others(2): Show | 5 | 308 | 0.0162 | -5 | c.-1- others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90738564 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02280.hp1 others(18): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0069a0001c0001t0001g0071others(18): Show | 21 | 280 | 0.0750 | -5 | c.-4- others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90747795 | GTTTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 NA18940.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0032a0004c0006t0002g0029a0004c0006t0002g0030others(2): Show | 5 | 280 | 0.0179 | -5 | c.98+ others(18): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90754354 | TAAGAG | T | intron_variant | MODIFIER | HG02071.hp1 HG03017.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036a0001c0001t0001g0180a0001c0001t0002g0198others(1): Show | 4 | 280 | 0.0143 | -5 | c.960 others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90776982 | GGTTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(56): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0002g0014a0001c0002t0001g0001a0001c0002t0001g0010others(55): Show | 59 | 280 | 0.2107 | -5 | c.255 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03195.hp2 others(4): Show |
a0001a0003a0008 | a0001c0001a0001c0021a0001c0023others(2): Show | a0001c0001t0001a0001c0021t0002a0001c0023t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0156a0001c0001t0001g0244others(4): Show | 7 | 280 | 0.0250 | -5 | c.282 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90790484 | CATATT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(48): Show |
a0001a0002a0004 | a0001c0002a0001c0009a0001c0017others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(47): Show | 51 | 280 | 0.1821 | -5 | c.282 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90806510 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02647.hp1 others(8): Show |
a0001a0008 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0009t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0069a0001c0001t0001g0156others(8): Show | 11 | 280 | 0.0393 | -5 | c.375 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90818223 | ACTATC | A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(1): Show | 4 | 280 | 0.0143 | -5 | c.*29 others(16): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 2058 | chr15 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100277027 | TGCCCG | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00673.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0130a0001c0001t0002g0002others(38): Show | 61 | 378 | 0.1614 | -5 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S4_chr4_6711174_6722664 | 6721996 | CACACA | C | downstream_gene_variant | MODIFIER | HG02015.hp2 NA19011.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 458 | 0.0066 | -5 | c.*51 others(16): Show |
BLOC1S4 | ENSG00000186222.5 | transcript | ENST00000320776.5 | protein_coding | 4333 | chr4 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8012276 | AAATAT | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0299a0001c0001t0002g0300 | 3 | 364 | 0.0082 | -5 | c.*33 others(16): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 1290 | chr6 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45609790 | CTCTCT | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088a0001c0001t0003g0089a0001c0001t0003g0090 | 3 | 362 | 0.0083 | -5 | c.*32 others(16): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 83 | chr15 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122154162 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01169.hp2 HG02129.hp2 others(5): Show |
a0001 | a0001c0002a0001c0033 | a0001c0002t0001a0001c0033t0001 | a0001c0002t0001g0002a0001c0002t0001g0050a0001c0002t0001g0051others(4): Show | 8 | 336 | 0.0238 | -5 | c.-34 others(18): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122159477 | TTTTTA | T | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105a0001c0005t0001g0106a0001c0005t0001g0107others(7): Show | 11 | 336 | 0.0327 | -5 | c.-34 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122200991 | CTAACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(60): Show |
a0001a0019 | a0001c0001a0001c0003a0001c0034others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0143a0001c0001t0001g0174a0001c0001t0001g0181others(60): Show | 63 | 336 | 0.1875 | -5 | c.138 others(20): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122231539 | GTTTGT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show |
a0003a0009 | a0003c0006a0009c0011 | a0003c0006t0001a0009c0011t0001a0009c0011t0007 | a0003c0006t0001g0012a0003c0006t0001g0038a0003c0006t0001g0040others(9): Show | 12 | 336 | 0.0357 | -5 | c.332 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 26/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122290805 | AAAAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show |
a0003a0009 | a0003c0006a0009c0011 | a0003c0006t0001a0009c0011t0001a0009c0011t0007 | a0003c0006t0001g0012a0003c0006t0001g0038a0003c0006t0001g0040others(9): Show | 12 | 336 | 0.0357 | -5 | c.938 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122330452 | TTTTGG | T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01168.hp2 others(27): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0004a0002c0043others(4): Show | a0001c0001t0001a0002c0004t0001a0002c0043t0001others(4): Show | a0001c0001t0001g0141a0001c0001t0001g0155a0002c0004t0001g0049others(27): Show | 30 | 336 | 0.0893 | -5 | c.115 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 68/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34816388 | TGAGCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(159): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0032a0003c0003others(18): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0036others(48): Show | a0002c0002t0002g0047a0002c0002t0002g0048a0002c0002t0002g0049others(159): Show | 162 | 312 | 0.5192 | -5 | c.45- others(20): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34838339 | TGAAAA | T | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0272a0001c0001t0015g0273a0001c0001t0015g0275 | 3 | 312 | 0.0096 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34846077 | TCCCTC | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(54): Show |
a0003a0005a0007others(3): Show | a0003c0003a0003c0022a0003c0027others(5): Show | a0003c0003t0003a0003c0003t0011a0003c0003t0012others(16): Show | a0003c0003t0003g0004a0003c0003t0003g0102a0003c0003t0003g0103others(54): Show | 57 | 312 | 0.1827 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34852533 | CCCTCT | C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01106.hp1 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0025a0002c0002t0002others(10): Show | a0001c0001t0001g0202a0001c0001t0001g0211a0001c0001t0001g0231others(30): Show | 33 | 312 | 0.1058 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34869640 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(38): Show |
a0002a0021a0022 | a0002c0002a0002c0032a0021c0031others(1): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0042others(3): Show | a0002c0002t0002g0047a0002c0002t0002g0048a0002c0002t0002g0049others(38): Show | 41 | 312 | 0.1314 | -5 | c.371 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100040730 | TGAAAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp2 others(11): Show |
a0002a0016a0021 | a0002c0003a0016c0022a0021c0026 | a0002c0003t0001a0016c0022t0001a0021c0026t0001 | a0002c0003t0001g0007a0002c0003t0001g0008a0002c0003t0001g0009others(11): Show | 14 | 188 | 0.0745 | -5 | c.408 others(22): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 19/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG02257.hp1 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0004a0002c0003a0004c0005others(6): Show | a0001c0004t0001a0002c0003t0001a0004c0005t0001others(6): Show | a0001c0004t0001g0040a0001c0004t0001g0041a0001c0004t0001g0047others(19): Show | 22 | 188 | 0.1170 | -5 | c.208 others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43789680 | TCACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(100): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(78): Show | 103 | 414 | 0.2488 | -5 | c.135 others(22): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BLVRA_chr7_43753680_43812342 | 43801622 | TGTTAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0002t0002g0245others(24): Show | 37 | 414 | 0.0894 | -5 | c.460 others(22): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13288990 | CAGATT | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0133a0001c0001t0001g0304others(7): Show | 10 | 314 | 0.0319 | -5 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |