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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLK_chr8_11489387_11569599 | 11540056 | CTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02486.hp1 others(11): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0005a0001c0003t0007a0001c0005t0009others(4): Show | a0001c0001t0005g0085a0001c0003t0007g0028a0001c0005t0009g0119others(10): Show | 14 | 308 | 0.0455 | -2 | c.-1- others(17): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11559327 | TCA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(72): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0002a0001c0001t0003g0078a0001c0001t0003g0251others(64): Show | 75 | 308 | 0.2435 | -2 | c.102 others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11559507 | ACT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(63): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(11): Show | a0001c0001t0003g0002a0001c0001t0003g0078a0001c0001t0003g0251others(56): Show | 66 | 308 | 0.2143 | -2 | c.102 others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11561826 | ATT | A | intron_variant | MODIFIER | HG02486.hp1 HG02976.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0009a0001c0005t0010 | a0001c0005t0009g0119a0001c0005t0009g0242a0001c0005t0009g0243others(3): Show | 7 | 308 | 0.0227 | -2 | c.118 others(19): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11566289 | CTG | C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG03041.hp2 others(1): Show |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0013a0004c0009t0004 | a0001c0004t0013g0076a0004c0009t0004g0083a0004c0009t0004g0084others(1): Show | 4 | 308 | 0.0130 | -2 | c.*21 others(13): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1691 | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11566764 | CCT | C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0219a0001c0001t0001g0225a0001c0001t0001g0235others(18): Show | 21 | 308 | 0.0682 | -2 | c.*26 others(13): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 2166 | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30248432 | GCA | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(169): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 172 | 298 | 0.5772 | -2 | c.*58 others(11): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 12/12 | 583 | chr17 | TogoVar | |||||
BLMH_chr17_30243203_30296944 | 30266523 | CAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 8 | 298 | 0.0269 | -2 | c.121 others(19): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30283518 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0002c0002t0001a0006c0011t0001 | a0001c0001t0001g0009a0001c0001t0001g0058a0001c0001t0001g0212others(4): Show | 9 | 298 | 0.0302 | -2 | c.645 others(19): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 6/11 | chr17 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30284827 | CAT | C | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0031a0001c0001t0002g0137others(1): Show | 7 | 298 | 0.0235 | -2 | c.645 others(17): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 6/11 | chr17 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90725988 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0002g0003others(6): Show | 9 | 280 | 0.0321 | -2 | c.-5+ others(17): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90734628 | CTG | C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 NA18906.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0013 | a0001c0001t0001a0001c0002t0001a0006c0013t0001 | a0001c0001t0001g0270a0001c0002t0001g0268a0006c0013t0001g0269 | 3 | 280 | 0.0107 | -2 | c.-4- others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90734693 | ACG | A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0012a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0007a0001c0001t0002g0020a0001c0001t0002g0247others(3): Show | 6 | 280 | 0.0214 | -2 | c.-4- others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90734696 | CAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00609.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(80): Show | 83 | 280 | 0.2964 | -2 | c.-4- others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90735236 | AAT | A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01167.hp2 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0067a0001c0001t0001g0149others(44): Show | 48 | 280 | 0.1714 | -2 | c.-4- others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90742998 | CTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(76): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0111others(75): Show | 79 | 280 | 0.2821 | -2 | c.-4- others(17): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90747237 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG01496.hp1 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 280 | 0.0714 | -2 | c.-4- others(15): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90759913 | TAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp1 others(78): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0009a0001c0001t0001g0047a0001c0001t0001g0069others(77): Show | 81 | 280 | 0.2893 | -2 | c.108 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90771106 | ATC | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01081.hp2 others(43): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(43): Show | 46 | 280 | 0.1643 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90771595 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(61): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(61): Show | 64 | 280 | 0.2286 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90773511 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp1 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(68): Show | 71 | 280 | 0.2536 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90774066 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01496.hp1 HG02647.hp1 others(10): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0023others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0023t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(10): Show | 13 | 280 | 0.0464 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90774807 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(66): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(66): Show | 69 | 280 | 0.2464 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90775495 | ATT | A | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(1): Show | 4 | 280 | 0.0143 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90775530 | GTA | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0048others(48): Show | 51 | 280 | 0.1821 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90779305 | GTC | 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 | -2 | c.255 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90784327 | CTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03195.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0008c0018t0001 | a0001c0001t0001g0009a0001c0001t0001g0069a0001c0001t0001g0156others(2): Show | 5 | 280 | 0.0179 | -2 | c.266 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90787036 | CTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02922.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0009t0001others(2): Show | a0001c0001t0002g0079a0001c0001t0002g0272a0001c0001t0002g0279others(4): Show | 7 | 280 | 0.0250 | -2 | c.282 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90788471 | GTT | G | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02257.hp1 others(6): Show |
a0001a0008 | a0001c0001a0001c0014a0001c0023others(1): Show | a0001c0001t0001a0001c0014t0004a0001c0023t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0047a0001c0001t0001g0130others(6): Show | 9 | 280 | 0.0321 | -2 | c.282 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789042 | GAT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(109): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0035others(109): Show | 112 | 280 | 0.4000 | -2 | c.282 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789987 | GTT | G | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG02451.hp2 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0007 | a0001c0001t0001a0001c0001t0002a0004c0006t0002others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0226a0001c0001t0002g0022others(5): Show | 8 | 280 | 0.0286 | -2 | c.282 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90792092 | TTC | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0100a0001c0002t0001g0001a0001c0002t0001g0010others(52): Show | 56 | 280 | 0.2000 | -2 | c.301 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90794462 | CAG | C | intron_variant | MODIFIER | HG00323.hp1 HG04115.hp1 NA18940.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0029a0004c0006t0002g0030a0004c0006t0002g0031others(3): Show | 6 | 280 | 0.0214 | -2 | c.321 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90797414 | CAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0011a0001c0025 | a0001c0001t0001a0001c0011t0011a0001c0025t0001 | a0001c0001t0001g0004a0001c0001t0001g0177a0001c0001t0001g0190others(4): Show | 7 | 280 | 0.0250 | -2 | c.321 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90798696 | CAG | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(42): Show | 46 | 280 | 0.1643 | -2 | c.335 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799603 | CTG | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(42): Show | 46 | 280 | 0.1643 | -2 | c.335 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799626 | TAA | T | intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG02145.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(14): Show | 17 | 280 | 0.0607 | -2 | c.335 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90799702 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(42): Show | 46 | 280 | 0.1643 | -2 | c.335 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90803163 | TAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(42): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(41): Show | 45 | 280 | 0.1607 | -2 | c.335 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90811800 | GGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01081.hp2 others(41): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0012others(41): Show | 44 | 280 | 0.1571 | -2 | c.407 others(19): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90812434 | GAT | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(54): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(53): Show | 57 | 280 | 0.2036 | -2 | c.407 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90812651 | CCA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(54): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(53): Show | 57 | 280 | 0.2036 | -2 | c.407 others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96201711 | CAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01069.hp1 others(27): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(13): Show | a0001c0001t0004g0134a0001c0001t0004g0140a0001c0001t0004g0143others(26): Show | 30 | 322 | 0.0932 | -2 | c.935 others(17): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 13/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96213373 | GAC | G | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01361.hp2 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0037others(31): Show | 34 | 322 | 0.1056 | -2 | c.676 others(19): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 8/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96215411 | GTA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(129): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0033others(123): Show | 132 | 322 | 0.4099 | -2 | c.608 others(15): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 7/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96217674 | TAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0015a0001c0001t0044others(6): Show | a0001c0001t0001g0127a0001c0001t0001g0137a0001c0001t0015g0062others(9): Show | 12 | 322 | 0.0373 | -2 | c.526 others(17): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96229654 | CTG | C | intron_variant | MODIFIER | HG02148.hp2 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0301a0001c0001t0002g0292a0001c0001t0003g0104others(2): Show | 5 | 322 | 0.0155 | -2 | c.204 others(19): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96231726 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01069.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0030others(26): Show | 30 | 322 | 0.0932 | -2 | c.164 others(17): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96232817 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(24): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0056a0001c0002t0001g0131a0001c0002t0001g0161others(24): Show | 27 | 322 | 0.0839 | -2 | c.164 others(19): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96248585 | TTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02615.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004a0001c0008 | a0001c0003t0001a0001c0003t0007a0001c0003t0008others(7): Show | a0001c0003t0001g0294a0001c0003t0007g0041a0001c0003t0008g0017others(11): Show | 14 | 322 | 0.0435 | -2 | c.48- others(17): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar |