view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC5_chr17_78209253_78230635 | 78224045 | TTTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(166): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(45): Show |
169 | 432 | 0.3912 | -3 | c.*49 others(12): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4/4 | 499 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369946 | ATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01069.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0010t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0204 a0001c0001t0001g0244 a0001c0001t0001g0251 others(10): Show |
13 | 274 | 0.0475 | -3 | c.326 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32377255 | ACAT | A | intron_variant | MODIFIER | NA18954.hp1 NA18964.hp1 NA19054.hp1 |
a0002 | a0002c0004a0002c0024 | a0002c0004t0002a0002c0024t0002 | a0002c0004t0002g0180 a0002c0024t0002g0048 a0002c0024t0002g0049 |
3 | 274 | 0.0110 | -3 | c.326 others(18): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32381909 | GTTC | G | intron_variant | MODIFIER | NA18966.hp1 NA19000.hp2 NA19062.hp2 |
a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0082 a0002c0016t0002g0090 a0002c0016t0002g0096 |
3 | 274 | 0.0110 | -3 | c.645 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 3/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32389071 | TAAA | T | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0001g0027 others(2): Show |
5 | 274 | 0.0183 | -3 | c.839 others(18): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32419460 | TAAA | T | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0001g0027 others(2): Show |
5 | 274 | 0.0183 | -3 | c.287 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 10/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02055.hp1 others(4): Show |
a0001a0007 | a0001c0008a0001c0011a0001c0013others(1): Show | a0001c0008t0003a0001c0011t0001a0001c0013t0003others(1): Show | a0001c0008t0003g0108 a0001c0011t0001g0203 a0001c0011t0001g0208 others(4): Show |
7 | 274 | 0.0256 | -3 | c.324 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32440751 | TTTA | T | intron_variant | MODIFIER | HG03098.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0026 a0001c0009t0001g0027 a0001c0009t0001g0029 |
3 | 274 | 0.0110 | -3 | c.381 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 16/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32446738 | GTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01167.hp1 others(35): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(12): Show | a0001c0001t0001g0189 a0001c0003t0002g0130 a0001c0003t0003g0023 others(35): Show |
38 | 274 | 0.1387 | -3 | c.448 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32470584 | AGTT | A | intron_variant | MODIFIER | NA18966.hp1 NA19000.hp2 NA19062.hp2 |
a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0082 a0002c0016t0002g0090 a0002c0016t0002g0096 |
3 | 274 | 0.0110 | -3 | c.648 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 31/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG01433.hp1 others(12): Show |
a0001a0006a0013 | a0001c0001a0001c0005a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0101 a0001c0001t0001g0199 a0001c0001t0001g0202 others(12): Show |
15 | 274 | 0.0547 | -3 | c.740 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32485169 | CGTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
4 | 274 | 0.0146 | -3 | c.769 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 39/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0021a0001c0025a0002c0002 | a0001c0021t0002a0001c0025t0002a0002c0002t0002 | a0001c0021t0002g0176 a0001c0021t0002g0178 a0001c0025t0002g0175 others(2): Show |
5 | 274 | 0.0183 | -3 | c.998 others(18): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAA | C | intron_variant | MODIFIER | NA18951.hp2 NA18963.hp1 NA18966.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0225 others(4): Show |
7 | 274 | 0.0256 | -3 | c.131 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32607177 | CTAT | C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01175.hp1 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0008a0001c0013others(7): Show | a0001c0003t0003a0001c0003t0009a0001c0008t0003others(8): Show | a0001c0003t0003g0023 a0001c0003t0003g0032 a0001c0003t0003g0033 others(39): Show |
42 | 274 | 0.1533 | -3 | c.140 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 71/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32607190 | TATC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(114): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0005a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0100 others(114): Show |
117 | 274 | 0.4270 | -3 | c.140 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 71/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102796683 | TAAA | T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02071.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0178 a0001c0001t0001g0181 others(3): Show |
7 | 404 | 0.0173 | -3 | c.-30 others(14): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2435 | chr13 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102796698 | AAAT | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01168.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0244 a0001c0001t0002g0045 a0001c0001t0002g0121 others(13): Show |
18 | 404 | 0.0446 | -3 | c.-30 others(14): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2420 | chr13 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102796700 | ATAT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00733.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0217 a0001c0001t0002g0004 others(22): Show |
27 | 404 | 0.0668 | -3 | c.-30 others(14): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2418 | chr13 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102805775 | ATCT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 others(24): Show |
33 | 404 | 0.0817 | -3 | c.-12 others(20): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102831873 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0078 a0001c0001t0002g0004 others(72): Show |
103 | 404 | 0.2550 | -3 | c.103 others(20): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLACAT1_chr1_205429886_205461045 | 205448638 | TGAG | T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01167.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0006 | a0001c0001t0006g0023 a0001c0001t0006g0123 a0003c0003t0006g0179 |
5 | 394 | 0.0127 | -3 | c.-37 others(20): Show |
BLACAT1 | ENSG00000281406.2 | transcript | ENST00000629624.3 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
BLCAP_chr20_37512417_37532876 | 37519424 | GAAA | G | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp1 HG02071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0074 others(2): Show |
10 | 404 | 0.0248 | -3 | c.-17 others(18): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11520476 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(64): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0156 others(60): Show |
67 | 308 | 0.2175 | -3 | c.-1- others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11530673 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(228): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(219): Show |
231 | 308 | 0.7500 | -3 | c.-1- others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30276137 | CAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00741.hp2 others(37): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0004a0006c0007t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(28): Show |
40 | 298 | 0.1342 | -3 | c.646 others(20): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 6/11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90757241 | CAAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00621.hp2 others(35): Show |
a0001a0009 | a0001c0001a0001c0009a0009c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0054 others(35): Show |
38 | 280 | 0.1357 | -3 | c.108 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 5/21 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90773511 | CTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00741.hp1 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0063 a0001c0001t0001g0185 a0001c0001t0002g0014 others(49): Show |
53 | 280 | 0.1893 | -3 | c.255 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90774066 | CTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02630.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0047 a0001c0001t0002g0025 a0001c0001t0005g0050 others(3): Show |
6 | 280 | 0.0214 | -3 | c.255 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90777594 | GATA | G | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001a0004 | a0001c0002a0001c0009a0001c0017others(1): Show | a0001c0002t0001a0001c0009t0002a0001c0017t0001others(1): Show | a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0009t0002g0076 others(5): Show |
8 | 280 | 0.0286 | -3 | c.255 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90787036 | CTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0072 others(19): Show |
22 | 280 | 0.0786 | -3 | 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 | 90788471 | GTTT | G | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01175.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0052 others(43): Show |
46 | 280 | 0.1643 | -3 | 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 | 90794773 | TTAA | T | intron_variant | MODIFIER | HG03491.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 a0001c0001t0001g0265 |
2 | 280 | 0.0071 | -3 | c.321 others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90797414 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01496.hp1 others(48): Show |
a0001a0004a0009 | a0001c0001a0001c0009a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(48): Show |
51 | 280 | 0.1821 | -3 | c.321 others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799626 | TAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(108): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(108): Show |
111 | 280 | 0.3964 | -3 | c.335 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90816300 | GCCT | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01175.hp1 others(17): Show |
a0001a0003a0004others(2): Show | a0001c0009a0003c0003a0004c0008others(2): Show | a0001c0009t0002a0003c0003t0002a0003c0003t0003others(3): Show | a0001c0009t0002g0076 a0003c0003t0002g0046 a0003c0003t0002g0129 others(17): Show |
20 | 280 | 0.0714 | -3 | c.*10 others(14): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 135 | chr15 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96191235 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0043a0001c0002t0011 | a0001c0001t0011g0176 a0001c0001t0043g0080 a0001c0002t0011g0028 others(4): Show |
7 | 322 | 0.0217 | -3 | c.*73 others(12): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 17/17 | 735 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96200007 | GCAT | G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01074.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0158 others(38): Show |
41 | 322 | 0.1273 | -3 | c.109 others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 15/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96204972 | CTTG | C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp2 others(61): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0029 others(60): Show |
64 | 322 | 0.1988 | -3 | c.818 others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96228092 | TTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00741.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0073 others(62): Show |
67 | 322 | 0.2081 | -3 | c.205 others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96231726 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0067 others(174): Show |
183 | 322 | 0.5683 | -3 | c.164 others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96275434 | CAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01515.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0037 others(40): Show |
43 | 322 | 0.1335 | -3 | c.-40 others(14): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3866 | chr10 | TogoVar | |||||||
BLOC1S1_chr12_55711046_55724703 | 55717569 | AAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(8): Show |
30 | 410 | 0.0732 | -3 | c.218 others(18): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55719066 | TCTC | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 9 | 410 | 0.0220 | -3 | c.219 others(16): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55724674 | AAAG | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 |
3 | 410 | 0.0073 | -3 | c.*50 others(14): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 4972 | chr12 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100278446 | AAAG | A | intron_variant | MODIFIER | HG00609.hp2 HG02630.hp1 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0008a0002c0002t0003 | a0001c0004t0008g0048 a0001c0004t0008g0049 a0001c0004t0008g0050 others(2): Show |
5 | 378 | 0.0132 | -3 | c.397 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45184903 | CAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00673.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(8): Show |
73 | 426 | 0.1714 | -3 | c.*49 others(14): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 3104 | chr19 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8012800 | TAAC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(196): Show |
211 | 364 | 0.5797 | -3 | c.*28 others(14): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 766 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041688 | CCAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(113): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(105): Show |
116 | 364 | 0.3187 | -3 | c.196 others(18): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8052907 | AAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0004 | a0001c0001t0004g0009 a0001c0001t0004g0025 a0001c0001t0004g0026 others(13): Show |
17 | 364 | 0.0467 | -3 | c.195 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar |