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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTT | G | intron_variant | MODIFIER | HG02040.hp1 HG02622.hp1 HG02647.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0181 others(10): Show |
13 | 270 | 0.0482 | -6 | c.184 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857600 | TAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0156 a0001c0001t0002g0005 a0001c0001t0002g0043 others(17): Show |
20 | 270 | 0.0741 | -6 | c.225 others(23): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857610 | AAAAAAT | A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02698.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0004 a0001c0001t0002g0087 others(7): Show |
10 | 270 | 0.0370 | -6 | c.225 others(23): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47655860 | AAAAAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(49): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0006others(18): Show | a0001c0001t0001g0079 a0001c0001t0001g0179 a0001c0001t0001g0184 others(49): Show |
52 | 312 | 0.1667 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47656069 | GACACAC | G | intron_variant | MODIFIER | HG01070.hp2 HG02809.hp1 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0003c0004t0004g0084 |
3 | 312 | 0.0096 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659685 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01243.hp1 others(10): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0003a0006c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(5): Show | a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0001g0267 others(10): Show |
13 | 312 | 0.0417 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685741 | CTGTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 HG03710.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0006a0002c0003t0002a0002c0005t0002 | a0001c0002t0006g0103 a0002c0003t0002g0259 a0002c0005t0002g0300 |
3 | 312 | 0.0096 | -6 | c.228 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47690792 | TTGTGTG | T | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 others(1): Show |
4 | 312 | 0.0128 | -6 | c.228 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47705167 | CTTTCTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(185): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0017others(40): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(46): Show | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0028 others(185): Show |
188 | 312 | 0.6026 | -6 | c.*27 others(17): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1891 | chr19 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127044177 | CTTCACA | C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0250 |
3 | 344 | 0.0087 | -6 | c.*43 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3854 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127044220 | TTCACAC | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(48): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0041 others(47): Show |
51 | 344 | 0.1483 | -6 | c.*43 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3811 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105467 | CCCTCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(113): Show |
122 | 344 | 0.3547 | -6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127111221 | CTTCTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0050 others(101): Show |
109 | 344 | 0.3169 | -6 | c.-42 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 4068 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295392 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00741.hp2 others(29): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0349 a0001c0004t0001g0016 a0001c0004t0001g0260 others(28): Show |
32 | 400 | 0.0800 | -6 | c.761 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATAT | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02056.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0124 a0001c0001t0001g0126 others(14): Show |
18 | 400 | 0.0450 | -6 | c.761 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22616892 | TTTTTGG | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02572.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 others(6): Show |
9 | 386 | 0.0233 | -6 | c.*45 others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3525 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649853 | ACACACC | A | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG02818.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0025 others(6): Show |
9 | 386 | 0.0233 | -6 | c.9-5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22658838 | CGGTGGT | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00735.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0013others(6): Show | a0001c0001t0004g0223 a0001c0001t0004g0294 a0001c0001t0004g0296 others(9): Show |
13 | 386 | 0.0337 | -6 | c.8+1 others(21): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(88): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0146 a0001c0001t0001g0147 others(81): Show |
91 | 386 | 0.2358 | -6 | c.8+5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102351614 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01993.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0005 | a0001c0001t0001a0001c0010t0001a0004c0005t0001 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0261 others(12): Show |
16 | 344 | 0.0465 | -6 | c.995 others(21): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102360817 | TGGGTGA | T | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 others(2): Show |
5 | 344 | 0.0145 | -6 | c.996 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364186 | CAGAGAG | C | intron_variant | MODIFIER | HG00323.hp2 HG02572.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0001g0128 others(3): Show |
6 | 344 | 0.0174 | -6 | c.112 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369980 | ATATATG | A | intron_variant | MODIFIER | HG02040.hp1 HG02273.hp1 NA18947.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0016others(1): Show | a0002c0002t0002a0002c0004t0002a0002c0016t0002others(1): Show | a0002c0002t0002g0098 a0002c0004t0002g0169 a0002c0016t0002g0090 others(1): Show |
4 | 274 | 0.0146 | -6 | c.326 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397574 | CTGTGTG | C | 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 | -6 | c.103 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32416773 | TCCTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0190 a0001c0001t0001g0196 others(2): Show |
5 | 274 | 0.0183 | -6 | c.287 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 10/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460245 | GATATAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG03239.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0004a0002c0024 | a0001c0006t0003a0002c0004t0001a0002c0004t0002others(1): Show | a0001c0006t0003g0002 a0001c0006t0003g0009 a0002c0004t0001g0086 others(3): Show |
6 | 274 | 0.0219 | -6 | c.475 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32473706 | CGTGTGT | C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(1): Show | a0001c0001t0001a0001c0010t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0190 a0001c0010t0002g0051 a0001c0011t0001g0208 others(2): Show |
5 | 274 | 0.0183 | -6 | c.672 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 33/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01496.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(11): Show | a0001c0001t0001g0056 a0001c0001t0001g0219 a0001c0001t0001g0262 others(22): Show |
25 | 274 | 0.0912 | -6 | c.740 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32504034 | TTGTGTG | T | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 NA18522.hp2 |
a0001a0004 | a0001c0007a0001c0030a0004c0019 | a0001c0007t0004a0001c0030t0004a0004c0019t0003 | a0001c0007t0004g0017 a0001c0030t0004g0016 a0004c0019t0003g0144 |
3 | 274 | 0.0110 | -6 | c.949 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 49/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32541989 | TTCAGGA | T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03516.hp1 others(1): Show |
a0001a0007 | a0001c0013a0007c0047 | a0001c0013t0003a0007c0047t0008 | a0001c0013t0003g0152 a0001c0013t0003g0153 a0001c0013t0003g0154 others(1): Show |
4 | 274 | 0.0146 | -6 | c.122 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG02895.hp2 others(9): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0242 others(9): Show |
12 | 274 | 0.0438 | -6 | c.131 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32616560 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 NA18943.hp2 NA18947.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0002 | a0002c0002t0001g0210 a0002c0002t0002g0039 a0002c0002t0002g0040 others(3): Show |
6 | 274 | 0.0219 | -6 | c.143 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 73/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102814622 | ATCTGAC | A | intron_variant | MODIFIER | NA18747.hp2 NA18939.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0051 a0001c0001t0007g0290 a0001c0001t0007g0295 others(1): Show |
5 | 404 | 0.0124 | -6 | c.479 others(23): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102820351 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(140): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0078 others(106): Show |
143 | 404 | 0.3540 | -6 | c.606 others(21): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11492272 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 others(53): Show |
59 | 308 | 0.1916 | -6 | c.-23 others(17): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 2114 | chr8 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11533599 | GAGGAGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0130 others(53): Show |
60 | 308 | 0.1948 | -6 | c.-1- others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11535318 | AAGAAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG01515.hp1 HG01517.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0199 others(11): Show |
14 | 308 | 0.0455 | -6 | c.-1- others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11559506 | AACTCAC | A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02976.hp2 others(6): Show |
a0001a0005 | a0001c0004a0001c0005a0005c0013 | a0001c0004t0009a0001c0005t0009a0001c0005t0010others(1): Show | a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 others(5): Show |
9 | 308 | 0.0292 | -6 | c.102 others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11559514 | CACACAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02451.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0235 others(14): Show |
17 | 308 | 0.0552 | -6 | c.102 others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11569102 | CACATAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02056.hp1 HG02615.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0006others(10): Show | a0001c0001t0004g0086 a0001c0002t0004g0080 a0001c0002t0004g0102 others(25): Show |
28 | 308 | 0.0909 | -6 | c.*49 others(17): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 4504 | chr8 | TogoVar | |||||||
BLMH_chr17_30243203_30296944 | 30252533 | CAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02723.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
9 | 298 | 0.0302 | -6 | c.121 others(25): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11/11 | chr17 | TogoVar | |||||||
BLMH_chr17_30243203_30296944 | 30276474 | TTAAAGA | T | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00741.hp2 others(37): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0004a0006c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(28): Show |
40 | 298 | 0.1342 | -6 | c.646 others(23): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 6/11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90727156 | GTGTTTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03130.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0003 others(5): Show |
8 | 280 | 0.0286 | -6 | c.-5+ others(21): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90734696 | CAGAGAG | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(109): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 others(108): Show |
112 | 280 | 0.4000 | -6 | c.-4- others(23): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90735236 | AATATAT | A | intron_variant | MODIFIER | HG01515.hp1 HG01891.hp2 HG02965.hp2 others(10): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0113 others(10): Show |
13 | 280 | 0.0464 | -6 | c.-4- others(23): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276388 | GTCTCCC | G | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0014 | a0001c0001t0002g0131 a0001c0001t0002g0144 a0002c0002t0014g0041 |
4 | 378 | 0.0106 | -6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276407 | GTCTCCC | G | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0008 | a0001c0001t0001g0093 a0001c0001t0004g0040 a0001c0001t0004g0205 others(1): Show |
5 | 378 | 0.0132 | -6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | GCACACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01109.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(1): Show |
46 | 426 | 0.1080 | -6 | c.-16 others(17): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S4_chr4_6711174_6722664 | 6721973 | GCACACA | G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 4 | 458 | 0.0087 | -6 | c.*51 others(17): Show |
BLOC1S4 | ENSG00000186222.5 | transcript | ENST00000320776.5 | protein_coding | 4310 | chr4 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8038391 | GGAATAT | G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0172 a0001c0001t0001g0175 |
4 | 364 | 0.0110 | -6 | c.325 others(23): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar |