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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29508733 | CAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 HG03041.hp1 others(1): Show |
a0001a0003 | a0001c0009a0001c0017a0001c0022others(1): Show | a0001c0009t0005a0001c0017t0001a0001c0022t0001others(1): Show | a0001c0009t0005g0054 a0001c0017t0001g0012 a0001c0022t0001g0007 others(1): Show |
4 | 14 | 0.2857 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29517043 | ACTT | A | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 |
a0002 | a0002c0001a0002c0014 | a0002c0001t0001a0002c0014t0001 | a0002c0001t0001g0061 a0002c0014t0001g0009 |
2 | 80 | 0.0250 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29525791 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(24): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(26): Show | a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0006t0001g0026 others(30): Show |
33 | 49 | 0.6735 | -3 | c.115 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29530062 | CTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03041.hp1 others(4): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0017others(4): Show | a0001c0004t0001a0001c0006t0007a0001c0017t0001others(4): Show | a0001c0004t0001g0037 a0001c0006t0007g0056 a0001c0017t0001g0012 others(4): Show |
7 | 19 | 0.3684 | -3 | c.115 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29549030 | AAGG | A | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 |
a0001a0004 | a0001c0004a0004c0042 | a0001c0004t0001a0004c0042t0003 | a0001c0004t0001g0037 a0004c0042t0003g0073 |
2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29562375 | CACT | C | intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 |
a0001 | a0001c0016a0001c0037 | a0001c0016t0007a0001c0037t0005 | a0001c0016t0007g0004 a0001c0037t0005g0028 |
2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29570070 | TAAC | T | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 |
a0002 | a0002c0011a0002c0052 | a0002c0011t0001a0002c0052t0001 | a0002c0011t0001g0042 a0002c0052t0001g0017 |
2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29587436 | ACTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0001a0002c0007others(9): Show | a0001c0004t0001a0001c0004t0008a0002c0001t0001others(10): Show | a0001c0004t0001g0037 a0001c0004t0008g0003 a0002c0001t0001g0027 others(13): Show |
16 | 80 | 0.2000 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29591070 | CAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001a0003 | a0001c0009a0001c0058a0003c0010others(1): Show | a0001c0009t0005a0001c0058t0001a0003c0010t0006others(1): Show | a0001c0009t0005g0054 a0001c0058t0001g0024 a0003c0010t0006g0001 others(2): Show |
5 | 21 | 0.2381 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29716994 | TCCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0016others(27): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(28): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(38): Show |
41 | 58 | 0.7069 | -3 | c.787 others(18): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29739240 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0048a0002c0008a0002c0056others(5): Show | a0001c0048t0001a0002c0008t0001a0002c0056t0001others(5): Show | a0001c0048t0001g0047 a0002c0008t0001g0045 a0002c0056t0001g0040 others(5): Show |
8 | 27 | 0.2963 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29761844 | TAGA | T | intron_variant | MODIFIER | HG00738.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0058 | a0001c0004t0001a0001c0058t0001 | a0001c0004t0001g0037 a0001c0058t0001g0024 |
2 | 80 | 0.0250 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29784713 | AAAC | A | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0016a0001c0050 | a0001c0016t0007a0001c0050t0014 | a0001c0016t0007g0004 a0001c0050t0014g0077 |
2 | 7 | 0.2857 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29814834 | ATTG | A | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02258.hp1 others(3): Show |
a0002a0003a0004 | a0002c0001a0002c0008a0002c0030others(3): Show | a0002c0001t0001a0002c0008t0001a0002c0030t0001others(3): Show | a0002c0001t0001g0062 a0002c0008t0001g0049 a0002c0030t0001g0060 others(3): Show |
6 | 80 | 0.0750 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAG | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0016others(2): Show | a0001c0004t0008a0001c0006t0001a0001c0016t0007others(2): Show | a0001c0004t0008g0003 a0001c0006t0001g0036 a0001c0016t0007g0004 others(2): Show |
5 | 29 | 0.1724 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831059 | AGGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0017a0001c0023others(12): Show | a0001c0009t0005a0001c0017t0001a0001c0023t0010others(12): Show | a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0017t0001g0012 others(14): Show |
17 | 46 | 0.3696 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831070 | GGGA | G | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02055.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0016a0002c0001others(6): Show | a0001c0006t0007a0001c0016t0007a0002c0001t0001others(6): Show | a0001c0006t0007g0056 a0001c0016t0007g0004 a0002c0001t0001g0027 others(6): Show |
9 | 38 | 0.2368 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831108 | GAGA | G | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0004a0001c0040 | a0001c0004t0001a0001c0040t0001 | a0001c0004t0001g0021 a0001c0040t0001g0022 |
2 | 46 | 0.0435 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831178 | AGGG | A | intron_variant | MODIFIER | HG00323.hp1 HG02071.hp1 HG02572.hp2 others(1): Show |
a0002a0003a0005 | a0002c0001a0002c0011a0003c0015others(1): Show | a0002c0001t0001a0002c0011t0001a0003c0015t0002others(1): Show | a0002c0001t0001g0063 a0002c0011t0001g0042 a0003c0015t0002g0010 others(1): Show |
4 | 78 | 0.0513 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831189 | AAGG | A | intron_variant | MODIFIER | HG02895.hp1 HG03453.hp1 |
a0001a0004 | a0001c0039a0004c0002 | a0001c0039t0013a0004c0002t0003 | a0001c0039t0013g0079 a0004c0002t0003g0058 |
2 | 80 | 0.0250 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831232 | AGAG | A | intron_variant | MODIFIER | HG00738.hp2 NA19240.hp2 |
a0001a0005 | a0001c0058a0005c0046 | a0001c0058t0001a0005c0046t0004 | a0001c0058t0001g0024 a0005c0046t0004g0053 |
2 | 76 | 0.0263 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831259 | GGAA | G | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0004 | a0001c0016a0001c0027a0001c0039others(2): Show | a0001c0016t0007a0001c0027t0001a0001c0039t0013others(2): Show | a0001c0016t0007g0004 a0001c0027t0001g0013 a0001c0039t0013g0079 others(2): Show |
5 | 18 | 0.2778 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29853791 | CCCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0001c0035a0001c0058others(5): Show | a0001c0006t0001a0001c0035t0001a0001c0058t0001others(5): Show | a0001c0006t0001g0026 a0001c0035t0001g0068 a0001c0058t0001g0024 others(5): Show |
8 | 80 | 0.1000 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0022a0001c0033others(7): Show | a0001c0006t0001a0001c0022t0001a0001c0033t0001others(7): Show | a0001c0006t0001g0026 a0001c0022t0001g0007 a0001c0033t0001g0029 others(10): Show |
13 | 25 | 0.5200 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29908438 | CCTT | C | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 |
a0003a0006 | a0003c0026a0006c0029 | a0003c0026t0002a0006c0029t0001 | a0003c0026t0002g0015 a0006c0029t0001g0016 |
2 | 80 | 0.0250 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29910968 | AAAC | A | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 |
a0002a0003 | a0002c0007a0003c0003 | a0002c0007t0001a0003c0003t0002 | a0002c0007t0001g0066 a0003c0003t0002g0065 |
2 | 76 | 0.0263 | -3 | c.667 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29925650 | GATA | G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG03139.hp2 |
a0003a0006 | a0003c0026a0006c0029 | a0003c0026t0002a0006c0029t0001 | a0003c0026t0002g0015 a0006c0029t0001g0016 |
2 | 80 | 0.0250 | -3 | c.-49 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4065 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3657641 | GTTC | G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0002c0002t0002a0002c0009t0002 | a0001c0001t0001g0025 a0002c0002t0002g0024 a0002c0009t0002g0023 |
3 | 272 | 0.0110 | -3 | c.-71 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 558 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0002a0003 | a0002c0013a0003c0003 | a0002c0013t0002a0003c0003t0002 | a0002c0013t0002g0031 a0003c0003t0002g0006 a0003c0003t0002g0015 others(2): Show |
7 | 61 | 0.1148 | -3 | c.-62 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3701561 | GGAA | G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(137): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0005a0002c0006others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(15): Show | a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 others(122): Show |
140 | 272 | 0.5147 | -3 | c.908 others(10): Show |
p.Glu others(6): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 11/12 | 1065/1441 | 908/1176 | 303/391 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALLC_chr2_3653200_3707671 | 3703299 | AGCC | A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02056.hp2 HG02071.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0056 a0002c0002t0002g0004 a0003c0003t0001g0053 others(19): Show |
23 | 272 | 0.0846 | -3 | c.*73 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 629 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3703303 | GCCT | G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
a0002a0004a0006 | a0002c0009a0004c0004a0006c0008 | a0002c0009t0002a0004c0004t0001a0004c0004t0002others(3): Show | a0002c0009t0002g0023 a0004c0004t0001g0045 a0004c0004t0001g0137 others(5): Show |
8 | 271 | 0.0295 | -3 | c.*74 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 633 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3704179 | CGCA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
a0003 | a0003c0003a0003c0010 | a0003c0003t0002a0003c0010t0004 | a0003c0003t0002g0030 a0003c0003t0002g0039 a0003c0003t0002g0042 others(5): Show |
8 | 216 | 0.0370 | -3 | c.*16 others(14): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1509 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73385903 | TGGA | T | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG01346.hp1 HG01433.hp2 others(16): Show |
a0005a0012a0014 | a0005c0005a0005c0027a0005c0058others(2): Show | a0005c0005t0001a0005c0027t0001a0005c0058t0001others(2): Show | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(16): Show |
19 | 34 | 0.5588 | -3 | c.72_ others(8): Show |
p.Glu others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 105/12844 | 72/12507 | 24/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALMS1_chr2_73380836_73614916 | 73410816 | CTAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0004a0018 | a0004c0007a0004c0008a0004c0010others(3): Show | a0004c0007t0001a0004c0008t0001a0004c0010t0001others(3): Show | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(17): Show |
20 | 246 | 0.0813 | -3 | c.450 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73428846 | CCTT | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show |
8 | 246 | 0.0325 | -3 | c.133 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73429278 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(10): Show |
13 | 132 | 0.0985 | -3 | c.133 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73439079 | TTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(8): Show |
11 | 246 | 0.0447 | -3 | c.143 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73448097 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0001a0003a0007others(7): Show | a0001c0003a0001c0004a0001c0011others(43): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(43): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(126): Show |
129 | 246 | 0.5244 | -3 | c.157 others(12): Show |
p.Pro others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1607/12844 | 1574/12507 | 525/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALMS1_chr2_73380836_73614916 | 73521580 | CAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02976.hp2 others(2): Show |
a0004a0005a0008others(2): Show | a0004c0010a0005c0058a0008c0062others(2): Show | a0004c0010t0001a0005c0058t0001a0008c0062t0001others(2): Show | a0004c0010t0001g0104 a0005c0058t0001g0110 a0008c0062t0001g0121 others(2): Show |
5 | 81 | 0.0617 | -3 | c.978 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73522467 | CTTT | C | intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 NA19043.hp2 others(2): Show |
a0001a0008a0012 | a0001c0013a0001c0055a0008c0062others(1): Show | a0001c0013t0001a0001c0055t0001a0008c0062t0001others(1): Show | a0001c0013t0001g0241 a0001c0055t0001g0194 a0008c0062t0001g0121 others(2): Show |
5 | 87 | 0.0575 | -3 | c.978 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73582514 | GAAC | G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(23): Show |
a0004a0005a0010others(1): Show | a0004c0007a0004c0010a0004c0057others(3): Show | a0004c0007t0001a0004c0010t0001a0004c0057t0001others(3): Show | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(23): Show |
26 | 246 | 0.1057 | -3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73587004 | TTTG | T | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(37): Show |
a0001a0003a0007others(3): Show | a0001c0020a0001c0040a0003c0002others(7): Show | a0001c0020t0001a0001c0040t0001a0003c0002t0001others(7): Show | a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0040t0001g0207 others(37): Show |
40 | 246 | 0.1626 | -3 | c.115 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8078894 | CTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01516.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0161 a0001c0001t0001g0201 others(4): Show |
8 | 94 | 0.0851 | -3 | c.107 others(20): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 6997555 | ATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0111 others(4): Show |
13 | 40 | 0.3250 | -3 | c.337 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8045997 | CCAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0014a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(113): Show |
173 | 468 | 0.3697 | -3 | c.120 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052839 | TAGA | T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01167.hp2 others(49): Show |
a0001a0002a0004others(4): Show | a0001c0029a0002c0002a0004c0006others(6): Show | a0001c0029t0004a0002c0002t0002a0004c0006t0003others(7): Show | a0001c0029t0004g0161 a0002c0002t0002g0002 a0004c0006t0003g0023 others(39): Show |
52 | 468 | 0.1111 | -3 | c.*42 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3706 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4642686 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
335 | 366 | 0.9153 | -3 | c.-10 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1009 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4645757 | AACT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(370): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(138): Show |
373 | 469 | 0.7953 | -3 | c.-41 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 4080 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4646320 | TTCC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(362): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(135): Show |
365 | 470 | 0.7766 | -3 | c.-46 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 4643 | chr17 | TogoVar |