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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JUND_chr19_18274694_18286622 | 18280256 | T | TCGAGTCC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0000 | 1 | 408 | 0.0025 | 20 | c.*18 others(29): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | 184 | chr19 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41753352 | A | AAAATAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03209.hp2 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0005t0005a0001c0014t0007others(1): Show | a0001c0001t0001g0210 a0001c0005t0005g0234 a0001c0014t0007g0135 others(4): Show |
8 | 410 | 0.0195 | 20 | c.*23 others(31): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1256 | chr17 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124120709 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19240.hp1 |
a0001 | a0001c0019a0001c0043 | a0001c0019t0004a0001c0043t0006 | a0001c0019t0004g0104 a0001c0043t0006g0106 |
2 | 116 | 0.0172 | 20 | c.73+ others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124286082 | C | CCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02165.hp2 HG03139.hp2 others(1): Show |
a0001a0004 | a0001c0008a0001c0014a0001c0038others(1): Show | a0001c0008t0002a0001c0014t0007a0001c0038t0002others(1): Show | a0001c0008t0002g0071 a0001c0014t0007g0116 a0001c0038t0002g0028 others(1): Show |
4 | 116 | 0.0345 | 20 | c.970 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124286082 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03516.hp2 |
a0001a0006 | a0001c0012a0006c0045 | a0001c0012t0010a0006c0045t0010 | a0001c0012t0010g0078 a0006c0045t0010g0077 |
2 | 116 | 0.0172 | 20 | c.970 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124304127 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03225.hp1 |
a0001 | a0001c0023a0001c0032 | a0001c0023t0018a0001c0032t0003 | a0001c0023t0018g0038 a0001c0032t0003g0090 |
2 | 116 | 0.0172 | 20 | c.109 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 6/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124342150 | C | CTTTATTT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0039 | 1 | 116 | 0.0086 | 20 | c.164 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 9/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124347371 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02559.hp1 |
a0004a0005 | a0004c0013a0005c0077 | a0004c0013t0002a0005c0077t0001 | a0004c0013t0002g0001 a0004c0013t0002g0002 a0005c0077t0001g0061 |
3 | 116 | 0.0259 | 20 | c.177 others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124372906 | C | CAGTTTCA others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01496.hp2 HG02145.hp2 others(9): Show |
a0001a0002a0007 | a0001c0004a0001c0014a0001c0015others(7): Show | a0001c0004t0001a0001c0014t0007a0001c0015t0001others(7): Show | a0001c0004t0001g0111 a0001c0014t0007g0115 a0001c0014t0007g0116 others(9): Show |
12 | 116 | 0.1035 | 20 | c.177 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | chr3 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124372906 | C | CGGTTTCA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0003a0001c0002t0007a0001c0002t0017others(58): Show | a0001c0001t0003g0010 a0001c0001t0003g0112 a0001c0002t0007g0020 others(67): Show |
70 | 116 | 0.6035 | 20 | c.177 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495957 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18945.hp1 NA19004.hp2 |
a0001 | a0001c0018a0001c0038a0001c0072 | a0001c0018t0005a0001c0038t0002a0001c0072t0001 | a0001c0018t0005g0009 a0001c0038t0002g0028 a0001c0072t0001g0060 |
3 | 116 | 0.0259 | 20 | c.483 others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495965 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 116 | 0.0086 | 20 | c.483 others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124587698 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0050 | a0001c0050t0005 | a0001c0050t0005g0042 | 1 | 116 | 0.0086 | 20 | c.518 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124623399 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02723.hp2 HG02896.hp1 others(4): Show |
a0001a0008 | a0001c0008a0001c0012a0001c0035others(3): Show | a0001c0008t0004a0001c0012t0004a0001c0035t0002others(3): Show | a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0012t0004g0107 others(4): Show |
7 | 116 | 0.0603 | 20 | c.518 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124646391 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03540.hp1 NA18945.hp2 others(3): Show |
a0001 | a0001c0031a0001c0038a0001c0055others(3): Show | a0001c0031t0003a0001c0038t0002a0001c0055t0001others(3): Show | a0001c0031t0003g0018 a0001c0038t0002g0028 a0001c0055t0001g0031 others(3): Show |
6 | 116 | 0.0517 | 20 | c.566 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124705822 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0079 | 1 | 116 | 0.0086 | 20 | c.807 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 57/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124705822 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0047 | a0001c0047t0009 | a0001c0047t0009g0092 | 1 | 116 | 0.0086 | 20 | c.807 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 57/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 512249 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0023 | a0023c0038 | a0023c0038t0001 | a0023c0038t0001g0011 | 1 | 254 | 0.0039 | 20 | c.-84 others(37): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514223 | C | CCTTCCTC others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0236 | 1 | 254 | 0.0039 | 20 | c.-84 others(37): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 516998 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01123.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0047 others(14): Show |
17 | 254 | 0.0669 | 20 | c.-84 others(39): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8330782 | T | TAATCCCA others(13): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0008 | a0008c0031 | a0008c0031t0001 | a0008c0031t0001g0172 | 1 | 406 | 0.0025 | 20 | c.193 others(39): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8332816 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0220 a0001c0012t0001g0221 a0001c0012t0001g0222 others(1): Show |
4 | 406 | 0.0099 | 20 | c.193 others(37): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8345713 | G | GTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 NA18944.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0356 others(1): Show |
4 | 406 | 0.0099 | 20 | c.-25 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2452 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8345713 | G | GTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01934.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0344 a0003c0003t0001g0048 |
2 | 406 | 0.0049 | 20 | c.-25 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2452 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62278320 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0163 | 1 | 322 | 0.0031 | 20 | c.16+ others(35): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62320383 | A | AGATAGGC others(13): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0015 | a0015c0023 | a0015c0023t0016 | a0015c0023t0016g0115 | 1 | 322 | 0.0031 | 20 | c.-13 others(31): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 950 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079624 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 284 | 0.0035 | 20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079644 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0176 |
2 | 284 | 0.0070 | 20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079646 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 284 | 0.0035 | 20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079648 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 284 | 0.0035 | 20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210162222 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01070.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 others(12): Show |
15 | 284 | 0.0528 | 20 | c.-29 others(37): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46041878 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 321 | 0.0031 | 20 | c.202 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01099.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0308 others(7): Show |
10 | 321 | 0.0312 | 20 | c.129 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 321 | 0.0031 | 20 | c.129 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 a0001c0001t0002g0122 |
2 | 321 | 0.0062 | 20 | c.129 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG01515.hp1 others(7): Show |
a0001a0013 | a0001c0001a0001c0006a0013c0011 | a0001c0001t0002a0001c0001t0010a0001c0006t0004others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0127 a0001c0001t0002g0174 others(7): Show |
10 | 321 | 0.0312 | 20 | c.129 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46105906 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0202 a0001c0001t0008g0191 |
2 | 321 | 0.0062 | 20 | c.129 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46105906 | G | GAGACACA others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0298 | 1 | 321 | 0.0031 | 20 | c.129 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46125068 | A | AGGAGGGA others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 HG06807.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 others(1): Show |
4 | 321 | 0.0125 | 20 | c.129 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46130187 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01167.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0306 a0003c0004t0005g0308 a0003c0004t0005g0320 |
3 | 321 | 0.0094 | 20 | c.129 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96611903 | A | ATATATGT others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0087 |
2 | 340 | 0.0059 | 20 | c.108 others(37): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96611903 | A | ATATGTGT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02129.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0001t0001g0081 others(3): Show |
7 | 340 | 0.0206 | 20 | c.108 others(37): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96611903 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01496.hp1 HG03098.hp2 others(8): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0012 | a0001c0001t0001a0001c0001t0025a0003c0003t0001others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0194 a0001c0001t0001g0234 others(7): Show |
11 | 340 | 0.0324 | 20 | c.108 others(37): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 380 | 0.0026 | 20 | c.*37 others(31): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 NA18943.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0173 others(1): Show |
4 | 380 | 0.0105 | 20 | c.*37 others(31): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 380 | 0.0026 | 20 | c.*37 others(31): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49393682 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG02647.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0003a0003c0008t0003 | a0001c0001t0002g0176 a0001c0001t0003g0200 a0001c0001t0003g0211 others(1): Show |
4 | 354 | 0.0113 | 20 | c.44- others(33): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KAT14_chr20_18132863_18193035 | 18138232 | C | CTGCAGCT others(13): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0175 | 1 | 346 | 0.0029 | 20 | c.-45 others(37): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20081878 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01074.hp2 others(24): Show |
a0001a0008a0009 | a0001c0002a0001c0004a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(7): Show | a0001c0002t0001g0138 a0001c0002t0001g0151 a0001c0002t0001g0317 others(24): Show |
27 | 374 | 0.0722 | 20 | c.430 others(37): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02055.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0279 others(9): Show |
12 | 374 | 0.0321 | 20 | c.230 others(39): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |