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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JPH2_chr20_44101590_44192188 | 44134039 | T | TATTATAA | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 HG02155.hp1 others(7): Show |
a0001a0002a0009 | a0001c0006a0001c0012a0002c0002others(3): Show | a0001c0006t0032a0001c0012t0032a0002c0002t0013others(5): Show | a0001c0006t0032g0306 a0001c0012t0032g0293 a0002c0002t0013g0140 others(7): Show |
10 | 338 | 0.0296 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134084 | T | TATAAATA | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01358.hp2 others(18): Show |
a0001a0013 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(6): Show | a0001c0001t0003g0043 a0001c0001t0003g0083 a0001c0001t0003g0084 others(18): Show |
21 | 338 | 0.0621 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134185 | A | ATAAATAT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0077a0001c0003t0001a0001c0004t0044others(1): Show | a0001c0001t0077g0184 a0001c0003t0001g0221 a0001c0004t0044g0092 others(1): Show |
4 | 338 | 0.0118 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134359 | T | TATAATAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(31): Show |
a0001a0002a0013 | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0086 a0001c0001t0003g0043 a0001c0001t0003g0083 others(31): Show |
34 | 338 | 0.1006 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134524 | A | ATATATTT | intron_variant | MODIFIER | NA18941.hp1 NA18960.hp1 NA19088.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0046 | a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0046g0019 |
3 | 338 | 0.0089 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134675 | T | TATATTTA | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG01192.hp2 others(25): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0007a0001c0001t0078a0001c0001t0096others(20): Show | a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0001t0078g0159 others(25): Show |
28 | 338 | 0.0828 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPT1_chr17_75130248_75159512 | 75143385 | C | CCTCGTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(78): Show |
121 | 388 | 0.3119 | 7 | c.316 others(24): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18276307 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0029 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0029g0000 |
7 | 408 | 0.0172 | 7 | c.*41 others(18): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3386 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124146874 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02129.hp2 others(1): Show |
a0001 | a0001c0006a0001c0007a0001c0030others(1): Show | a0001c0006t0001a0001c0007t0002a0001c0030t0003others(1): Show | a0001c0006t0001g0013 a0001c0007t0002g0051 a0001c0030t0003g0018 others(1): Show |
4 | 116 | 0.0345 | 7 | c.74- others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124181076 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01258.hp2 others(7): Show |
a0001a0002a0004 | a0001c0002a0001c0014a0001c0016others(7): Show | a0001c0002t0017a0001c0014t0007a0001c0016t0025others(7): Show | a0001c0002t0017g0053 a0001c0014t0007g0115 a0001c0016t0025g0004 others(7): Show |
10 | 116 | 0.0862 | 7 | c.74- others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124294520 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0006a0001c0008a0001c0010others(3): Show | a0001c0006t0001a0001c0008t0004a0001c0010t0002others(3): Show | a0001c0006t0001g0013 a0001c0008t0004g0021 a0001c0010t0002g0050 others(3): Show |
6 | 116 | 0.0517 | 7 | c.970 others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124404153 | G | GAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(39): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0007others(44): Show | a0001c0001t0003g0010 a0001c0002t0002g0011 a0001c0002t0007g0020 others(51): Show |
54 | 116 | 0.4655 | 7 | c.234 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 13/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124598657 | G | GTTGTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01074.hp2 others(8): Show |
a0001 | a0001c0003a0001c0007a0001c0011others(6): Show | a0001c0003t0001a0001c0003t0029a0001c0007t0002others(7): Show | a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0007t0002g0019 others(8): Show |
11 | 116 | 0.0948 | 7 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124602952 | T | TTATTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0003a0001c0007a0001c0011others(4): Show | a0001c0003t0001a0001c0003t0029a0001c0007t0002others(5): Show | a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0007t0002g0019 others(6): Show |
9 | 116 | 0.0776 | 7 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124602954 | G | GTTTTGTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(28): Show | a0001c0001t0033a0001c0003t0028a0001c0004t0004others(30): Show | a0001c0001t0033g0026 a0001c0003t0028g0081 a0001c0004t0004g0113 others(32): Show |
35 | 116 | 0.3017 | 7 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 502546 | T | TCTTAGAC | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG02622.hp2 others(5): Show |
a0001a0004a0006others(2): Show | a0001c0055a0004c0011a0006c0019others(4): Show | a0001c0055t0008a0004c0011t0001a0006c0019t0005others(4): Show | a0001c0055t0008g0077 a0004c0011t0001g0076 a0006c0019t0005g0105 others(5): Show |
8 | 254 | 0.0315 | 7 | c.-22 others(18): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2148 | chr9 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 662665 | A | ATTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01891.hp2 others(15): Show |
a0001a0004a0006others(6): Show | a0001c0001a0004c0005a0004c0011others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0048 a0001c0001t0004g0181 a0001c0001t0009g0052 others(15): Show |
18 | 254 | 0.0709 | 7 | c.-83 others(26): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 691612 | T | TTTTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(125): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0054a0001c0059others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(125): Show |
128 | 254 | 0.5039 | 7 | c.37+ others(24): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK2_chr19_11159270_11202545 | 11166719 | G | GTGGCCCC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00735.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0004a0001c0002t0002a0003c0003t0014others(2): Show | a0001c0001t0004g0150 a0001c0001t0004g0221 a0001c0001t0004g0262 others(10): Show |
13 | 394 | 0.0330 | 7 | c.250 others(24): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 12/12 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8325296 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01192.hp2 others(16): Show |
a0005a0008a0011 | a0005c0005a0005c0014a0008c0008others(1): Show | a0005c0005t0003a0005c0014t0003a0008c0008t0003others(1): Show | a0005c0005t0003g0004 a0005c0005t0003g0021 a0005c0005t0003g0022 others(15): Show |
19 | 406 | 0.0468 | 7 | c.193 others(24): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8329492 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG02486.hp2 HG03688.hp1 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0021 a0005c0005t0003g0022 a0005c0005t0003g0025 others(4): Show |
7 | 406 | 0.0172 | 7 | c.193 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340274 | C | CGTATATA | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01167.hp2 others(18): Show |
a0004a0006a0015 | a0004c0004a0006c0006a0015c0023 | a0004c0004t0002a0006c0006t0002a0015c0023t0002 | a0004c0004t0002g0009 a0004c0004t0002g0279 a0004c0004t0002g0288 others(17): Show |
21 | 406 | 0.0517 | 7 | c.-28 others(24): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62249163 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG02258.hp2 others(3): Show |
a0001a0006a0023 | a0001c0027a0006c0006a0023c0041 | a0001c0027t0005a0006c0006t0005a0006c0006t0028others(1): Show | a0001c0027t0005g0126 a0006c0006t0005g0004 a0006c0006t0005g0005 others(3): Show |
6 | 322 | 0.0186 | 7 | c.268 others(26): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46031116 | A | AGCCCTCT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 321 | 0.0685 | 7 | c.*35 others(16): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 15/15 | 359 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AGAGAGAG | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0262 others(4): Show |
7 | 321 | 0.0218 | 7 | c.184 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46089626 | A | AAAATATG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(60): Show |
a0002 | a0002c0003a0002c0010a0002c0013 | a0002c0003t0001a0002c0003t0003a0002c0003t0012others(7): Show | a0002c0003t0001g0165 a0002c0003t0003g0238 a0002c0003t0003g0239 others(60): Show |
63 | 321 | 0.1963 | 7 | c.143 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46100442 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01099.hp2 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(12): Show |
15 | 321 | 0.0467 | 7 | c.129 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46130049 | G | GGTGGCAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 321 | 0.0685 | 7 | c.129 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46144745 | T | TAGAATAG | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0116 others(2): Show |
5 | 321 | 0.0156 | 7 | c.128 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96609950 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 NA18962.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0193 a0001c0001t0001g0213 a0002c0002t0001g0130 others(3): Show |
6 | 340 | 0.0177 | 7 | c.132 others(24): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 11/20 | chr2 | TogoVar | |||||||
KANTR_chrX_53089142_53132438 | 53097350 | G | GTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 others(38): Show |
52 | 249 | 0.2088 | 7 | c.-94 others(26): Show |
KANTR | ENSG00000232593.8 | transcript | ENST00000604062.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20061984 | C | CATAATAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(32): Show |
a0001a0005a0006 | a0001c0002a0001c0004a0005c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0199 a0001c0002t0001g0317 a0001c0002t0001g0330 others(32): Show |
35 | 374 | 0.0936 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062009 | T | TATAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(28): Show |
a0001a0005a0006 | a0001c0002a0001c0004a0005c0014others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0004others(4): Show | a0001c0002t0002g0176 a0001c0002t0002g0179 a0001c0002t0002g0184 others(28): Show |
31 | 374 | 0.0829 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062151 | A | ACATATAT | intron_variant | MODIFIER | HG01934.hp1 HG02896.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0003 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0005t0001g0018 others(2): Show |
5 | 374 | 0.0134 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20070309 | C | CTTTCTTT | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01433.hp2 others(11): Show |
a0001a0005a0006 | a0001c0004a0005c0014a0006c0010 | a0001c0004t0001a0001c0004t0003a0001c0004t0010others(2): Show | a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 others(11): Show |
14 | 374 | 0.0374 | 7 | c.304 others(24): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20092235 | A | ATTTATTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(120): Show |
123 | 374 | 0.3289 | 7 | c.431 others(24): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 41930729 | T | TATATATA | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0085a0001c0003t0037a0001c0017t0102 | a0001c0001t0085g0172 a0001c0003t0037g0145 a0001c0003t0037g0146 others(1): Show |
4 | 374 | 0.0107 | 7 | c.*14 others(18): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 17/17 | 1475 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054252 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02109.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0007g0155 |
3 | 374 | 0.0080 | 7 | c.-26 others(18): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2266 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830769 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(2): Show | a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0195 others(14): Show |
17 | 236 | 0.0720 | 7 | c.-32 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74898997 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 others(45): Show |
48 | 236 | 0.2034 | 7 | c.621 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74942765 | C | CAAAAAAA | intron_variant | MODIFIER | HG02970.hp1 HG03471.hp2 NA18943.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0061 others(2): Show |
5 | 236 | 0.0212 | 7 | c.622 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74944808 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0011 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(14): Show |
17 | 236 | 0.0720 | 7 | c.622 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34137036 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01192.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0106 a0001c0001t0001g0139 others(35): Show |
38 | 344 | 0.1105 | 7 | c.*53 others(18): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 3637 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34172256 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 others(138): Show |
141 | 344 | 0.4099 | 7 | c.-14 others(24): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34193851 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0041 others(71): Show |
74 | 344 | 0.2151 | 7 | c.-15 others(26): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27613104 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0004a0007a0015 | a0004c0007a0007c0016a0007c0031others(1): Show | a0004c0007t0001a0004c0007t0010a0004c0007t0012others(3): Show | a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 others(6): Show |
9 | 152 | 0.0592 | 7 | c.64- others(22): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14622689 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01099.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0122 a0001c0001t0003g0005 others(7): Show |
10 | 146 | 0.0685 | 7 | c.226 others(26): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0052 a0001c0001t0002g0042 a0001c0001t0004g0044 others(6): Show |
9 | 146 | 0.0616 | 7 | c.226 others(26): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14858209 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0035 others(14): Show |
17 | 146 | 0.1164 | 7 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14956299 | G | GAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0137 others(4): Show |
7 | 146 | 0.0480 | 7 | c.227 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |