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 | 29510441 | AATGATT | A | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 |
a0002 | a0002c0001a0002c0014 | a0002c0001t0001a0002c0014t0001 | a0002c0001t0001g0061 a0002c0014t0001g0009 |
2 | 80 | 0.0250 | -6 | c.115 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29523858 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0025a0002c0008others(1): Show | a0001c0004t0001a0001c0025t0011a0002c0008t0001others(1): Show | a0001c0004t0001g0037 a0001c0025t0011g0074 a0002c0008t0001g0049 others(1): Show |
4 | 7 | 0.5714 | -6 | c.115 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29559768 | CGTGTGT | C | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001a0002a0004 | a0001c0039a0002c0011a0002c0052others(1): Show | a0001c0039t0013a0002c0011t0001a0002c0052t0001others(1): Show | a0001c0039t0013g0079 a0002c0011t0001g0042 a0002c0052t0001g0017 others(1): Show |
4 | 24 | 0.1667 | -6 | c.953 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29706975 | ATGTGTG | A | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01109.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0017a0001c0020a0001c0022others(5): Show | a0001c0017t0001a0001c0020t0005a0001c0022t0001others(5): Show | a0001c0017t0001g0012 a0001c0020t0005g0005 a0001c0022t0001g0007 others(5): Show |
8 | 17 | 0.4706 | -6 | c.787 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29710499 | CGTGTGT | C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01433.hp2 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0009a0001c0017a0001c0022others(7): Show | a0001c0009t0005a0001c0017t0001a0001c0022t0001others(7): Show | a0001c0009t0005g0054 a0001c0017t0001g0012 a0001c0022t0001g0007 others(7): Show |
10 | 24 | 0.4167 | -6 | c.787 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29785954 | CACACAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 |
a0001 | a0001c0004a0001c0050 | a0001c0004t0008a0001c0050t0014 | a0001c0004t0008g0003 a0001c0050t0014g0077 |
2 | 80 | 0.0250 | -6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAA | T | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG02145.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0023a0001c0035others(6): Show | a0001c0009t0005a0001c0023t0010a0001c0035t0001others(6): Show | a0001c0009t0005g0018 a0001c0023t0010g0076 a0001c0035t0001g0068 others(6): Show |
9 | 31 | 0.2903 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAGAAG | A | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 NA19240.hp2 |
a0005a0007 | a0005c0013a0005c0046a0007c0057 | a0005c0013t0004a0005c0046t0004a0007c0057t0002 | a0005c0013t0004g0020 a0005c0046t0004g0053 a0007c0057t0002g0023 |
3 | 27 | 0.1111 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831174 | AGGAAGG | A | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02145.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0017a0001c0020others(6): Show | a0001c0009t0005a0001c0017t0001a0001c0020t0005others(6): Show | a0001c0009t0005g0054 a0001c0017t0001g0012 a0001c0020t0005g0005 others(6): Show |
9 | 73 | 0.1233 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831223 | GGAAGAA | G | intron_variant | MODIFIER | HG01123.hp1 HG02895.hp2 HG02897.hp1 |
a0002a0003 | a0002c0018a0003c0010 | a0002c0018t0001a0003c0010t0006 | a0002c0018t0001g0008 a0003c0010t0006g0001 a0003c0010t0006g0002 |
3 | 45 | 0.0667 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAG | C | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 |
a0003a0005 | a0003c0003a0005c0021 | a0003c0003t0002a0005c0021t0004 | a0003c0003t0002g0065 a0005c0021t0004g0006 |
2 | 37 | 0.0541 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894847 | CACACAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02451.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0058a0002c0008others(3): Show | a0001c0006t0001a0001c0058t0001a0002c0008t0001others(3): Show | a0001c0006t0001g0026 a0001c0058t0001g0024 a0002c0008t0001g0049 others(3): Show |
6 | 80 | 0.0750 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29908280 | GCACACA | G | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG02055.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0025a0001c0035others(8): Show | a0001c0004t0008a0001c0025t0011a0001c0035t0001others(8): Show | a0001c0004t0008g0003 a0001c0025t0011g0074 a0001c0035t0001g0068 others(8): Show |
11 | 22 | 0.5000 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909480 | CAGAGAG | C | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG01884.hp2 |
a0001a0002a0003 | a0001c0027a0002c0007a0003c0003 | a0001c0027t0001a0002c0007t0001a0003c0003t0002 | a0001c0027t0001g0013 a0002c0007t0001g0066 a0003c0003t0002g0065 |
3 | 25 | 0.1200 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02056.hp2 HG02109.hp1 others(9): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0003c0003t0002a0004c0004t0002 | a0002c0002t0002g0024 a0002c0002t0002g0162 a0002c0002t0002g0192 others(9): Show |
12 | 66 | 0.1818 | -6 | c.-62 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3698778 | ATACTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0070 a0002c0002t0001g0109 a0002c0002t0002g0003 others(12): Show |
19 | 272 | 0.0699 | -6 | c.850 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73385903 | TGGAGGA | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0003a0004others(5): Show | a0001c0003a0001c0004a0001c0011others(41): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(41): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(131): Show |
134 | 149 | 0.8993 | -6 | c.69_ others(11): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 102/12844 | 69/12507 | 23/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALMS1_chr2_73380836_73614916 | 73395040 | GTGTGTA | G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 others(7): Show |
10 | 245 | 0.0408 | -6 | c.324 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01169.hp2 others(30): Show |
a0001a0002a0004others(4): Show | a0001c0041a0002c0001a0002c0067others(10): Show | a0001c0041t0001a0002c0001t0001a0002c0067t0001others(11): Show | a0001c0041t0001g0094 a0002c0001t0001g0124 a0002c0001t0001g0125 others(30): Show |
33 | 86 | 0.3837 | -6 | c.954 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73543251 | AACAAGC | A | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0023a0001c0024a0001c0048 | a0001c0023t0001a0001c0024t0001a0001c0048t0001 | a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 others(2): Show |
5 | 246 | 0.0203 | -6 | c.990 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73563735 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
a0001a0003a0007others(1): Show | a0001c0003a0001c0004a0001c0011others(7): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(7): Show | a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0003t0002g0091 others(15): Show |
18 | 229 | 0.0786 | -6 | c.103 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01175.hp1 others(7): Show |
a0001a0008a0016 | a0001c0003a0001c0004a0001c0013others(3): Show | a0001c0003t0002a0001c0004t0001a0001c0013t0001others(3): Show | a0001c0003t0002g0082 a0001c0003t0002g0085 a0001c0003t0002g0088 others(7): Show |
10 | 38 | 0.2632 | -6 | c.103 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8087231 | CACACAG | C | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0009 others(5): Show |
13 | 460 | 0.0283 | -6 | c.147 others(19): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8087259 | GACACAC | G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0043 a0001c0001t0002g0075 |
8 | 170 | 0.0471 | -6 | c.147 others(19): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7004110 | AAATTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(74): Show |
a0002a0006a0008 | a0002c0002a0002c0013a0006c0019others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(3): Show | a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0022 others(49): Show |
77 | 402 | 0.1915 | -6 | c.116 others(25): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040574 | AAGGAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG02896.hp1 others(2): Show |
a0001a0006a0008others(1): Show | a0001c0010a0006c0011a0008c0013others(1): Show | a0001c0010t0004a0006c0011t0001a0008c0013t0003others(1): Show | a0001c0010t0004g0068 a0006c0011t0001g0218 a0008c0013t0003g0219 others(1): Show |
5 | 463 | 0.0108 | -6 | c.449 others(21): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4628884 | TATATAG | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0049 a0001c0006t0001g0053 a0001c0006t0001g0086 others(3): Show |
8 | 470 | 0.0170 | -6 | c.*27 others(17): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2034 | chr17 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30735434 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 others(60): Show |
83 | 99 | 0.8384 | -6 | c.-17 others(15): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 108 | chr13 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0227 others(8): Show |
11 | 162 | 0.0679 | -6 | c.323 others(21): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45372908 | CTTAAAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0002t0002g0004 others(59): Show |
67 | 344 | 0.1948 | -6 | c.-13 others(17): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 1307 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45374099 | TGCGGGG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0001t0001g0197 a0001c0002t0002g0004 a0001c0002t0002g0026 others(65): Show |
74 | 284 | 0.2606 | -6 | c.-18 others(15): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45390988 | CCCCTCT | C | intron_variant | MODIFIER | HG01106.hp1 HG03669.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0234 others(1): Show |
4 | 344 | 0.0116 | -6 | c.350 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45402086 | CAAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0009 | a0001c0003t0001g0018 a0001c0003t0001g0155 a0001c0003t0001g0156 others(2): Show |
6 | 69 | 0.0870 | -6 | c.431 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8098227 | GGTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 others(4): Show |
7 | 420 | 0.0167 | -6 | c.195 others(25): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478606 | GTATATA | G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03927.hp1 NA20905.hp2 |
a0004a0007a0016 | a0004c0003a0007c0015a0016c0030 | a0004c0003t0003a0007c0015t0003a0016c0030t0001 | a0004c0003t0003g0262 a0007c0015t0003g0170 a0016c0030t0001g0242 |
3 | 267 | 0.0112 | -6 | c.*32 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2640 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478625 | TATATAC | T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001a0003a0009others(5): Show | a0001c0002a0001c0023a0003c0021others(6): Show | a0001c0002t0003a0001c0023t0010a0003c0021t0006others(6): Show | a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0023t0010g0097 others(9): Show |
12 | 278 | 0.0432 | -6 | c.*31 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2621 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG01433.hp2 HG01515.hp2 others(11): Show |
a0001a0003a0004others(4): Show | a0001c0002a0003c0004a0004c0003others(5): Show | a0001c0002t0005a0003c0004t0001a0003c0004t0003others(8): Show | a0001c0002t0005g0307 a0003c0004t0001g0216 a0003c0004t0001g0229 others(11): Show |
14 | 151 | 0.0927 | -6 | c.624 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58512699 | GTGTGTA | G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0082a0002c0006others(9): Show | a0001c0002t0003a0001c0002t0005a0001c0082t0005others(12): Show | a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0005g0289 others(18): Show |
21 | 318 | 0.0660 | -6 | c.602 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58528536 | CAAAAAT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0010a0017a0030others(2): Show | a0010c0011a0010c0063a0017c0026others(3): Show | a0010c0011t0003a0010c0011t0007a0010c0063t0007others(6): Show | a0010c0011t0003g0259 a0010c0011t0007g0082 a0010c0011t0007g0083 others(9): Show |
12 | 318 | 0.0377 | -6 | c.550 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58553844 | TTTTTGG | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0080a0001c0081others(16): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(29): Show | a0001c0002t0001g0146 a0001c0002t0001g0200 a0001c0002t0001g0231 others(52): Show |
55 | 318 | 0.1730 | -6 | c.196 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58613708 | AAATAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00735.hp1 others(23): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0014a0001c0023others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0014t0001others(21): Show | a0001c0002t0001g0221 a0001c0002t0003g0318 a0001c0014t0001g0249 others(23): Show |
26 | 119 | 0.2185 | -6 | c.-20 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(91): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0079a0001c0080others(36): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(46): Show | a0001c0002t0001g0146 a0001c0002t0001g0166 a0001c0002t0001g0174 others(91): Show |
94 | 106 | 0.8868 | -6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58630612 | CACACAT | C | upstream_gene_variant | MODIFIER | HG02165.hp2 NA19084.hp2 NA19240.hp2 |
a0002a0011 | a0002c0001a0011c0008 | a0002c0001t0001a0011c0008t0003 | a0002c0001t0001g0188 a0002c0001t0001g0196 a0011c0008t0003g0314 |
3 | 318 | 0.0094 | -6 | c.-18 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1522 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84838600 | CATTATT | C | intron_variant | MODIFIER | HG01070.hp2 HG02258.hp1 HG02280.hp2 others(10): Show |
a0001a0020 | a0001c0004a0001c0043a0020c0039 | a0001c0004t0001a0001c0004t0007a0001c0004t0010others(3): Show | a0001c0004t0001g0091 a0001c0004t0001g0255 a0001c0004t0007g0043 others(8): Show |
13 | 308 | 0.0422 | -6 | c.305 others(21): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847205 | CGGGGAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0010 | a0001c0004t0007g0044 a0001c0004t0007g0251 a0001c0004t0007g0253 others(1): Show |
5 | 318 | 0.0157 | -6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | chr15 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84847208 | GGAGAGA | G | intron_variant | MODIFIER | HG03453.hp1 HG03579.hp2 NA18939.hp1 others(7): Show |
a0001a0002a0024 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0008t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0201 a0001c0002t0002g0003 others(5): Show |
10 | 67 | 0.1493 | -6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21530954 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0257 a0001c0001t0003g0066 a0001c0001t0003g0067 others(98): Show |
101 | 180 | 0.5611 | -6 | c.-10 others(27): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385162 | GGAGGAA | G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02630.hp1 others(1): Show |
a0002a0018 | a0002c0002a0018c0021 | a0002c0002t0001a0018c0021t0001 | a0002c0002t0001g0004 a0018c0021t0001g0004 |
4 | 408 | 0.0098 | -6 | c.*33 others(17): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2274 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201719590 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0010 | a0001c0004a0002c0006a0010c0014 | a0001c0004t0001a0001c0004t0003a0002c0006t0001others(1): Show | a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0044 others(18): Show |
23 | 174 | 0.1322 | -6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201720714 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(119): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(108): Show |
122 | 344 | 0.3547 | -6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar |