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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JARID2_chr6_15241069_15527042 | 15497650 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01256.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0001t0002g0107 a0001c0001t0002g0148 a0001c0001t0002g0149 others(23): Show |
26 | 97 | 0.2680 | 7 | c.194 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28035313 | C | CAAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02273.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 others(8): Show |
11 | 59 | 0.1864 | 7 | c.116 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28121186 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(166): Show |
169 | 187 | 0.9037 | 7 | c.115 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28180106 | C | CCGCCCCG | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 |
3 | 204 | 0.0147 | 7 | c.115 others(22): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JCHAIN_chr4_70650541_70671508 | 70659549 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01496.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0111 others(1): Show |
8 | 47 | 0.1702 | 7 | c.189 others(24): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75433195 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0060 others(12): Show |
22 | 174 | 0.1264 | 7 | c.-23 others(24): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02071.hp2 others(7): Show |
a0003a0005a0008 | a0003c0003a0003c0035a0005c0005others(1): Show | a0003c0003t0001a0003c0035t0001a0005c0005t0001others(1): Show | a0003c0003t0001g0167 a0003c0003t0001g0175 a0003c0003t0001g0189 others(7): Show |
10 | 146 | 0.0685 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(45): Show |
a0001a0003a0008others(2): Show | a0001c0008a0001c0031a0003c0003others(4): Show | a0001c0008t0001a0001c0031t0001a0003c0003t0001others(4): Show | a0001c0008t0001g0299 a0001c0008t0001g0300 a0001c0008t0001g0301 others(45): Show |
48 | 177 | 0.2712 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAATAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01074.hp1 others(22): Show |
a0004a0010a0013others(3): Show | a0004c0004a0004c0022a0010c0013others(4): Show | a0004c0004t0002a0004c0022t0002a0010c0013t0002others(4): Show | a0004c0004t0002g0004 a0004c0004t0002g0006 a0004c0004t0002g0008 others(22): Show |
25 | 154 | 0.1623 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63245478 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01081.hp1 others(16): Show |
a0001a0004a0008others(3): Show | a0001c0001a0001c0010a0001c0016others(6): Show | a0001c0001t0001a0001c0010t0001a0001c0016t0001others(6): Show | a0001c0001t0001g0153 a0001c0010t0001g0306 a0001c0016t0001g0031 others(16): Show |
19 | 55 | 0.3455 | 7 | c.447 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63247719 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG03831.hp2 NA18985.hp2 others(6): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 others(6): Show |
9 | 90 | 0.1000 | 7 | c.447 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63276884 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0010a0001c0032others(19): Show | a0001c0001t0001a0001c0010t0001a0001c0032t0001others(19): Show | a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 others(106): Show |
109 | 181 | 0.6022 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02559.hp2 others(5): Show |
a0001a0005a0006 | a0001c0008a0005c0005a0006c0006 | a0001c0008t0001a0005c0005t0001a0006c0006t0001 | a0001c0008t0001g0300 a0005c0005t0001g0119 a0005c0005t0001g0121 others(5): Show |
8 | 75 | 0.1067 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63305461 | T | TCTCTCTC | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG03041.hp1 |
a0001a0015 | a0001c0010a0015c0034 | a0001c0010t0001a0015c0034t0001 | a0001c0010t0001g0307 a0001c0010t0001g0308 a0015c0034t0001g0304 |
3 | 308 | 0.0097 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337613 | G | GAAAAAGA | intron_variant | MODIFIER | HG00639.hp1 HG03942.hp2 NA18906.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0153 a0005c0005t0001g0121 a0005c0005t0001g0149 |
3 | 278 | 0.0108 | 7 | c.333 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337618 | G | GAAAAAGA | intron_variant | MODIFIER | HG01192.hp2 HG02895.hp2 HG02965.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0143 a0001c0001t0001g0152 a0005c0005t0001g0117 others(2): Show |
5 | 291 | 0.0172 | 7 | c.333 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63349100 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0150 others(4): Show |
7 | 67 | 0.1045 | 7 | c.333 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | AATTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01515.hp1 others(7): Show |
a0004a0016 | a0004c0004a0004c0022a0016c0018 | a0004c0004t0002a0004c0022t0002a0016c0018t0002 | a0004c0004t0002g0008 a0004c0004t0002g0016 a0004c0004t0002g0017 others(7): Show |
10 | 18 | 0.5556 | 7 | c.169 others(24): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT | intron_variant | MODIFIER | HG01433.hp2 HG02738.hp1 HG02970.hp2 others(5): Show |
a0001a0006a0023 | a0001c0001a0006c0006a0023c0017 | a0001c0001t0001a0006c0006t0001a0023c0017t0001 | a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0066 others(5): Show |
8 | 16 | 0.5000 | 7 | c.169 others(24): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79238648 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01934.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0043 | a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 others(8): Show |
11 | 201 | 0.0547 | 7 | c.103 others(24): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79243169 | G | GAAGGGGC | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02615.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0014a0005c0007t0029a0005c0007t0030others(1): Show | a0005c0007t0014g0186 a0005c0007t0014g0187 a0005c0007t0029g0185 others(2): Show |
5 | 340 | 0.0147 | 7 | c.103 others(26): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44132392 | A | ACACACAC | intron_variant | MODIFIER | HG00408.hp1 NA18962.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0049 | a0001c0001t0009g0134 a0001c0001t0012g0148 a0001c0001t0049g0077 |
3 | 334 | 0.0090 | 7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134039 | T | TATTATAA | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 HG02155.hp1 others(7): Show |
a0001a0002a0007 | a0001c0006a0001c0012a0002c0002others(3): Show | a0001c0006t0032a0001c0012t0032a0002c0002t0013others(5): Show | a0001c0006t0032g0304 a0001c0012t0032g0291 a0002c0002t0013g0140 others(7): Show |
10 | 328 | 0.0305 | 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 |
a0001a0009 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(6): Show | a0001c0001t0003g0043 a0001c0001t0003g0087 a0001c0001t0003g0088 others(18): Show |
21 | 327 | 0.0642 | 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 a0001c0003t0001g0219 a0001c0004t0044g0092 others(1): Show |
4 | 326 | 0.0123 | 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 |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0090 a0001c0001t0003g0043 a0001c0001t0003g0087 others(31): Show |
34 | 335 | 0.1015 | 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 | a0001c0003t0002g0018 a0001c0003t0002g0020 a0001c0003t0046g0019 |
3 | 336 | 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 |
a0001a0002a0007 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0007a0001c0001t0060a0001c0001t0078others(20): Show | a0001c0001t0007g0295 a0001c0001t0007g0296 a0001c0001t0060g0122 others(25): Show |
28 | 335 | 0.0836 | 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(117): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show |
120 | 386 | 0.3109 | 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 | a0001c0001t0002a0001c0001t0005a0001c0001t0026 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0026g0000 |
7 | 49 | 0.1429 | 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 | a0001c0006a0001c0007a0001c0031others(1): Show | a0001c0006t0001a0001c0007t0002a0001c0031t0003others(1): Show | a0001c0006t0001g0013 a0001c0007t0002g0025 a0001c0031t0003g0019 others(1): Show |
4 | 5 | 0.8000 | 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 | a0001c0002t0017g0052 a0001c0014t0007g0115 a0001c0016t0025g0004 others(7): Show |
10 | 53 | 0.1887 | 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 a0001c0008t0004g0028 a0001c0010t0002g0024 others(3): Show |
6 | 47 | 0.1277 | 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 a0001c0002t0007g0027 others(51): Show |
54 | 57 | 0.9474 | 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 | a0001c0003t0001g0049 a0001c0003t0029g0022 a0001c0007t0002g0018 others(8): Show |
11 | 114 | 0.0965 | 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 | a0001c0003t0001g0049 a0001c0003t0029g0022 a0001c0007t0002g0018 others(6): Show |
9 | 114 | 0.0789 | 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 | a0001c0001t0033g0033 a0001c0003t0028g0081 a0001c0004t0004g0113 others(32): Show |
35 | 71 | 0.4930 | 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 | a0001c0054a0004c0011a0006c0019others(4): Show | a0001c0054t0008a0004c0011t0001a0006c0019t0005others(4): Show | a0001c0054t0008g0077 a0004c0011t0001g0076 a0006c0019t0005g0103 others(5): Show |
8 | 191 | 0.0419 | 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 | 43 | 0.4186 | 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(124): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0053a0001c0058others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(124): Show |
127 | 252 | 0.5040 | 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 | a0001c0001t0004g0149 a0001c0001t0004g0223 a0001c0001t0004g0262 others(10): Show |
13 | 391 | 0.0332 | 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 |
a0005a0008a0010 | a0005c0005a0005c0014a0008c0008others(1): Show | a0005c0005t0003a0005c0014t0003a0008c0008t0003others(1): Show | a0005c0005t0003g0009 a0005c0005t0003g0041 a0005c0005t0003g0042 others(15): Show |
19 | 155 | 0.1226 | 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 | a0005c0005t0003g0039 a0005c0005t0003g0041 a0005c0005t0003g0043 others(4): Show |
7 | 168 | 0.0417 | 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 |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0002a0006c0006t0002 | a0004c0004t0002g0025 a0004c0004t0002g0254 a0004c0004t0002g0274 others(17): Show |
21 | 373 | 0.0563 | 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 |
a0002a0006a0022 | a0002c0028a0006c0006a0022c0040 | a0002c0028t0005a0006c0006t0005a0006c0006t0028others(1): Show | a0002c0028t0005g0128 a0006c0006t0005g0008 a0006c0006t0005g0009 others(3): Show |
6 | 92 | 0.0652 | 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 | 320 | 0.0688 | 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 | 56 | 0.1250 | 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(59): Show |
a0002 | a0002c0003a0002c0010a0002c0013 | a0002c0003t0001a0002c0003t0003a0002c0003t0012others(7): Show | a0002c0003t0001g0165 a0002c0003t0003g0238 a0002c0003t0003g0239 others(59): Show |
62 | 320 | 0.1938 | 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 | 313 | 0.0479 | 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 | 320 | 0.0688 | 7 | c.129 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar |