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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALN1_chr7_71774491_72417338 | 72114340 | TAACAACA | T | intron_variant | MODIFIER | HG01496.hp2 HG03195.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0003g0124 |
3 | 141 | 0.0213 | -7 | c.245 others(24): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72115484 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0057 others(8): Show |
11 | 54 | 0.2037 | -7 | c.245 others(24): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72347248 | CCTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0118 a0001c0001t0049g0130 |
2 | 142 | 0.0141 | -7 | c.119 others(26): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CALR3_chr19_16474061_16501167 | 16495227 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0172 a0001c0001t0001g0173 others(3): Show |
6 | 128 | 0.0469 | -7 | c.193 others(22): Show |
CALR3 | ENSG00000269058.6 | transcript | ENST00000269881.8 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
CALR_chr19_12933609_12949489 | 12935574 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0088 a0001c0001t0004g0003 others(1): Show |
11 | 263 | 0.0418 | -7 | c.-31 others(18): Show |
CALR | ENSG00000179218.15 | transcript | ENST00000316448.10 | protein_coding | 3034 | chr19 | TogoVar | |||||||
CALU_chr7_128734359_128778400 | 128777304 | TCAGAGGA | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 |
3 | 336 | 0.0089 | -7 | c.*81 others(18): Show |
CALU | ENSG00000128595.17 | transcript | ENST00000249364.9 | protein_coding | 3905 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12362482 | CTTTTTGT | C | intron_variant | MODIFIER | HG00423.hp2 HG01346.hp2 HG01928.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0002g0032 others(21): Show |
24 | 214 | 0.1122 | -7 | c.92+ others(24): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12522190 | CCTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00642.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0172 others(61): Show |
64 | 177 | 0.3616 | -7 | c.93- others(24): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12623390 | TCCCTCCC | T | intron_variant | MODIFIER | HG01928.hp1 HG02055.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0002g0197 others(9): Show |
12 | 214 | 0.0561 | -7 | c.225 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12688674 | CTTTTATT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0039others(4): Show | a0001c0001t0002g0032 a0001c0001t0011g0017 a0001c0001t0039g0157 others(5): Show |
8 | 214 | 0.0374 | -7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694139 | TAATATAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01168.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0076 others(39): Show |
42 | 212 | 0.1981 | -7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12694201 | ATATTATG | A | intron_variant | MODIFIER | HG01106.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0002t0010 | a0001c0001t0111g0028 a0001c0002t0010g0209 |
2 | 214 | 0.0093 | -7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12743353 | AAAAAAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0046 a0001c0001t0001g0130 a0001c0001t0001g0133 others(11): Show |
14 | 214 | 0.0654 | -7 | c.300 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12827645 | CCTCTCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(157): Show |
160 | 214 | 0.7477 | -7 | c.104 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12840116 | ATCTTGCT | A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0104others(1): Show | a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0031 others(4): Show |
7 | 214 | 0.0327 | -7 | c.*11 others(20): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 4572 | chr10 | TogoVar | |||||||
CAMK2A_chr5_150214491_150294773 | 150217001 | CCCCACGA | C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0030 | a0001c0001t0026g0005 a0001c0001t0030g0020 a0001c0001t0030g0300 |
4 | 336 | 0.0119 | -7 | c.*57 others(18): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 2489 | chr5 | TogoVar | |||||||
CAMK2A_chr5_150214491_150294773 | 150225752 | ATTATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(209): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0013 others(198): Show |
212 | 335 | 0.6328 | -7 | c.123 others(26): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 17/18 | chr5 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113633795 | GTACATAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0109 a0001c0001t0002g0200 a0001c0001t0004g0031 others(44): Show |
47 | 276 | 0.1703 | -7 | c.221 others(26): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
CAMK2G_chr10_73807501_73879555 | 73812076 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0106 a0001c0001t0002g0112 others(6): Show |
9 | 77 | 0.1169 | -7 | c.*24 others(18): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 424 | chr10 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111248346 | AAATGTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0137 others(82): Show |
85 | 244 | 0.3484 | -7 | c.161 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111459686 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0074 others(97): Show |
100 | 173 | 0.5780 | -7 | c.625 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111469167 | AAAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0113 others(16): Show |
19 | 228 | 0.0833 | -7 | c.626 others(24): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111469169 | AAAAATAT | A | intron_variant | MODIFIER | HG01517.hp2 HG02027.hp1 HG02735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(5): Show | a0001c0001t0004g0056 a0001c0001t0005g0071 a0001c0001t0012g0070 others(5): Show |
8 | 237 | 0.0338 | -7 | c.626 others(24): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44374117 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show |
8 | 67 | 0.1194 | -7 | c.311 others(24): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44411979 | ATTTTTTT | A | intron_variant | MODIFIER | HG01258.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0001g0127 others(9): Show |
12 | 22 | 0.5455 | -7 | c.376 others(26): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44659075 | GTTTTTTT | G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01099.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(13): Show |
16 | 139 | 0.1151 | -7 | c.377 others(26): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44708211 | ATTTTTTT | A | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0117 others(3): Show |
6 | 19 | 0.3158 | -7 | c.556 others(22): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMLG_chr5_134733548_134757157 | 134755609 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01943.hp2 HG02071.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 others(3): Show |
10 | 279 | 0.0358 | -7 | c.*46 others(18): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3453 | chr5 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01256.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0077 others(15): Show |
18 | 98 | 0.1837 | -7 | c.161 others(24): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMSAP3_chr19_7590863_7623304 | 7596959 | ATCCCGGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show |
4 | 356 | 0.0112 | -7 | c.148 others(22): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7619564 | GGGGGGAT | G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00673.hp2 others(52): Show |
a0001a0008 | a0001c0001a0001c0020a0008c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(49): Show |
55 | 356 | 0.1545 | -7 | c.*15 others(18): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1261 | chr19 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6963271 | GCCCCCCC | G | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01243.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0040 a0001c0001t0002g0036 a0001c0001t0002g0046 others(18): Show |
21 | 26 | 0.8077 | -7 | c.235 others(28): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7310640 | CTTTCTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0024 a0001c0002t0003g0007 a0001c0003t0001g0004 others(3): Show |
6 | 58 | 0.1034 | -7 | c.438 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7493643 | TGGGGGGG | T | intron_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01496.hp2 others(38): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0002g0001 others(38): Show |
41 | 43 | 0.9535 | -7 | c.510 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7585282 | AGGGTTGC | A | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02451.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0002t0003g0025 others(1): Show |
4 | 58 | 0.0690 | -7 | c.511 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179694144 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0003g0039 others(4): Show |
7 | 102 | 0.0686 | -7 | c.-49 others(18): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 4822 | chr5 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30801621 | AAAAAAAG | A | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG01891.hp2 others(8): Show |
a0001a0016 | a0001c0001a0016c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(8): Show |
11 | 382 | 0.0288 | -7 | c.-33 others(24): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223730010 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01993.hp2 HG02280.hp1 others(13): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(6): Show | a0001c0001t0001g0229 a0001c0002t0001g0038 a0001c0002t0001g0311 others(12): Show |
16 | 175 | 0.0914 | -7 | c.307 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77066524 | GGGTCCTC | G | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02273.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0351 a0001c0001t0002g0013 a0001c0001t0003g0319 |
4 | 380 | 0.0105 | -7 | c.-60 others(16): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 446 | chr11 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230774735 | CTTTCTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG02895.hp2 HG02976.hp2 others(8): Show |
a0002a0010 | a0002c0006a0002c0009a0010c0036 | a0002c0006t0001a0002c0009t0001a0010c0036t0001 | a0002c0006t0001g0027 a0002c0009t0001g0015 a0002c0009t0001g0090 others(7): Show |
11 | 353 | 0.0312 | -7 | c.953 others(22): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34089258 | GACACTCC | G | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0002g0043 others(1): Show |
4 | 232 | 0.0172 | -7 | c.123 others(24): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30726971 | CAGTAACT | C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 a0002c0002t0001g0134 a0002c0002t0001g0135 |
3 | 376 | 0.0080 | -7 | c.154 others(24): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 9/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751907 | GTATTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp2 HG02040.hp1 others(20): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0048 a0003c0003t0001g0122 others(12): Show |
23 | 312 | 0.0737 | -7 | c.178 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751909 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02965.hp2 others(5): Show |
a0002a0006 | a0002c0002a0002c0005a0006c0010 | a0002c0002t0001a0002c0005t0001a0006c0010t0001 | a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0220 others(5): Show |
8 | 209 | 0.0383 | -7 | c.178 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311705 | AAAAAAAC | A | intron_variant | MODIFIER | HG01069.hp2 HG02004.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0027a0001c0003t0001 | a0001c0001t0002g0013 a0001c0001t0002g0141 a0001c0001t0002g0142 others(2): Show |
7 | 367 | 0.0191 | -7 | c.545 others(24): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19423516 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG02040.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0103 others(31): Show |
34 | 48 | 0.7083 | -7 | c.4-3 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19431720 | CAAAAAAT | C | intron_variant | MODIFIER | HG00597.hp1 HG02738.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0103 others(1): Show |
4 | 285 | 0.0140 | -7 | c.4-1 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19432042 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00673.hp2 others(76): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 others(76): Show |
79 | 212 | 0.3726 | -7 | c.4-1 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19441059 | CAAAACAA | C | intron_variant | MODIFIER | HG02257.hp2 NA18998.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0095 a0001c0001t0003g0228 a0001c0002t0003g0225 |
3 | 362 | 0.0083 | -7 | c.4-2 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19450168 | AAGAAAAG | A | intron_variant | MODIFIER | HG02040.hp2 HG02074.hp1 HG02155.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0103 a0001c0002t0001g0098 a0001c0002t0003g0143 others(3): Show |
6 | 362 | 0.0166 | -7 | c.4-3 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar |