| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DRC7_chr16_57689806_57736805 | 57691483 | GCTCCAAG others(2444): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0012others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0012t0002others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0193others(22): Show | 31 | 388 | 0.0799 | -2451 | c.-35 others(11): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 3322 | chr16 | TogoVar | |||||||
| EXD3_chr9_137301896_137428162 | 137359057 | CTGCCTCA others(2443): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(46): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0031a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0031t0001others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0016others(46): Show | 49 | 82 | 0.5976 | -2450 | c.656 others(17): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 7/21 | chr9 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805206 | ACCTTCCC others(2441): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 314 | 0.0032 | -2448 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 920 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805206 | ACCTTCCC others(2441): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 319 | 0.0031 | -2448 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3986 | chr2 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744724 | TTCGCCGT others(2441): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 366 | 0.0027 | -2448 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974553 | GGCCCAGG others(2441): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0123 | 1 | 150 | 0.0067 | -2448 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745124 | CTCGCCGT others(2440): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0298 | 1 | 366 | 0.0027 | -2447 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24325133 | ATCTCCAG others(2439): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0006g0070a0001c0001t0006g0146a0001c0001t0007g0195others(25): Show | 28 | 216 | 0.1296 | -2446 | c.349 others(19): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745156 | CCCGGGGT others(2439): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01168.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0039others(1): Show | a0001c0001t0001g0191a0001c0001t0001g0203a0001c0001t0001g0204others(21): Show | 25 | 366 | 0.0683 | -2446 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 147735810 | TTAAAGTT others(2437): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0026 | 1 | 40 | 0.0250 | -2444 | c.209 others(21): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| CDH1_chr16_68732292_68840537 | 68830096 | AGGCATGC others(2435): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 316 | 0.0032 | -2442 | c.243 others(17): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| LCOR_chr10_96827298_97000956 | 96857493 | CCCCTGCA others(2435): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0004 | a0001c0004t0122 | a0001c0004t0122g0011 | 1 | 288 | 0.0035 | -2442 | c.-33 others(21): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PEX14_chr1_10469950_10635758 | 10483496 | CAGTAGAG others(2434): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0247 | 2 | 258 | 0.0078 | -2441 | c.36+ others(15): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44262702 | AGCAGGCT others(2432): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA19003.hp2 |
a0001 | a0001c0062a0001c0102 | a0001c0062t0002a0001c0102t0059 | a0001c0062t0002g0292a0001c0102t0059g0218 | 2 | 380 | 0.0053 | -2439 | c.600 others(19): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
| PDLIM3_chr4_185495660_185540507 | 185520481 | TAAATATT others(2431): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(190): Show | 259 | 412 | 0.6286 | -2438 | c.330 others(16): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
| TMEM192_chr4_165065608_165117860 | 165081465 | ACTCCGCC others(2431): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(114): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(268): Show | 281 | 330 | 0.8515 | -2438 | c.677 others(17): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 5/5 | chr4 | TogoVar | |||||||
| TRIM49_chr11_89792655_89813575 | 89793565 | AAGGCTGG others(2431): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01192.hp1 others(15): Show |
a0002a0013 | a0002c0001a0013c0019 | a0002c0001t0001a0013c0019t0001 | a0002c0001t0001g0001a0002c0001t0001g0018a0002c0001t0001g0080others(8): Show | 18 | 253 | 0.0712 | -2438 | c.*21 others(11): Show |
TRIM49 | ENSG00000168930.13 | transcript | ENST00000329758.5 | protein_coding | 4089 | chr11 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1013791 | CGCCTCCA others(2429): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -2436 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GPR161_chr1_168074542_168141930 | 168119802 | GTGGGTGC others(2427): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0254 | 2 | 340 | 0.0059 | -2434 | c.-45 others(19): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
| SOD2_chr6_159664069_159698241 | 159665225 | TGCCTGTA others(2425): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0039others(44): Show | 119 | 364 | 0.3269 | -2432 | c.*14 others(13): Show |
SOD2 | ENSG00000291237.1 | transcript | ENST00000538183.7 | protein_coding | 3843 | chr6 | TogoVar | |||||||
| TPTE2_chr13_19417877_19566532 | 19503834 | GGGTTCAC others(2424): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0220 | 1 | 222 | 0.0045 | -2431 | c.-43 others(16): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
| ARID3B_chr15_74536220_74603131 | 74600701 | AGATGCCC others(2423): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0008 | a0008c0007 | a0008c0007t0004 | a0008c0007t0004g0133 | 1 | 338 | 0.0030 | -2430 | c.*49 others(11): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2571 | chr15 | TogoVar | |||||||
| FBXL18_chr7_5470797_5518809 | 5515790 | GGAGTCTC others(2423): Show |
G | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 338 | 0.0030 | -2430 | c.-45 others(11): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 1982 | chr7 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1403554 | AGAGTCGT others(2422): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -2429 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44597988 | GCCTCCCA others(2421): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105a0001c0001t0002g0042 | 2 | 198 | 0.0101 | -2428 | c.377 others(21): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PIGU_chr20_34555542_34682092 | 34654026 | TTTTTGTA others(2418): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(125): Show | 128 | 320 | 0.4000 | -2425 | c.195 others(16): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
| RESF1_chr12_31954415_31998107 | 31995684 | AAAGAATA others(2416): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02809.hp2 NA19030.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005a0002c0003t0001g0047a0002c0003t0001g0350others(1): Show | 4 | 452 | 0.0089 | -2423 | c.*31 others(11): Show |
RESF1 | ENSG00000174718.12 | transcript | ENST00000312561.9 | protein_coding | 2578 | chr12 | TogoVar | |||||||
| PIGT_chr20_45411141_45431241 | 45427808 | TAGACCAT others(2414): Show |
T | downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 462 | 0.0022 | -2421 | c.*19 others(11): Show |
PIGT | ENSG00000124155.19 | transcript | ENST00000279036.12 | protein_coding | 1568 | chr20 | TogoVar | |||||||
| PBLD_chr10_68277660_68337928 | 68308468 | CAGTATAT others(2412): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002a0002c0003t0012 | a0001c0001t0001g0279a0001c0001t0001g0280a0002c0003t0002g0006others(38): Show | 42 | 364 | 0.1154 | -2419 | c.-59 others(17): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
| ACAP1_chr17_7331529_7356477 | 7337829 | AGGCGACA others(2411): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0054 | 2 | 446 | 0.0045 | -2418 | c.111 others(16): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| ANKS3_chr16_4691511_4739271 | 4719902 | GCCTGTAA others(2410): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01109.hp2 others(5): Show |
a0004a0015 | a0004c0005a0015c0015 | a0004c0005t0002a0004c0005t0010a0015c0015t0005 | a0004c0005t0002g0072a0004c0005t0002g0073a0004c0005t0002g0074others(5): Show | 8 | 374 | 0.0214 | -2417 | c.573 others(17): Show |
ANKS3 | ENSG00000168096.15 | transcript | ENST00000304283.9 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
| PREX1_chr20_48619252_48832999 | 48758695 | GGAGCAGA others(2410): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0245 | 1 | 268 | 0.0037 | -2417 | c.220 others(19): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 1/39 | chr20 | TogoVar | |||||||
| CENPC_chr4_67463762_67550503 | 67515180 | AGGAGGCC others(2409): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02965.hp2 others(1): Show |
a0006a0007 | a0006c0010a0007c0009 | a0006c0010t0017a0007c0009t0014 | a0006c0010t0017g0243a0006c0010t0017g0244a0007c0009t0014g0245others(1): Show | 4 | 338 | 0.0118 | -2416 | c.830 others(15): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 7/18 | chr4 | TogoVar | |||||||
| SDHA_chr5_213320_262082 | 259666 | GAGCATTA others(2409): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 266 | 0.0038 | -2416 | c.*32 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2585 | chr5 | TogoVar | |||||||
| CCSER1_chr4_90122394_91610295 | 91551689 | ACACACAC others(2408): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0003c0005t0005 | a0001c0001t0005g0017a0003c0005t0005g0011 | 2 | 38 | 0.0526 | -2415 | c.221 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805563 | CCCCTCAG others(2408): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 314 | 0.0032 | -2415 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1277 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805563 | CCCCTCAG others(2408): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 319 | 0.0031 | -2415 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3629 | chr2 | TogoVar | |||||||
| CPPED1_chr16_12654799_12808887 | 12806473 | CGGAGGTT others(2407): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0015 | a0002c0002t0004g0012a0002c0002t0004g0015a0002c0002t0015g0016 | 3 | 290 | 0.0103 | -2414 | c.-51 others(11): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2587 | chr16 | TogoVar | |||||||
| HHAT_chr1_210323902_210681290 | 210549122 | GATAATAA others(2407): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(50): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0094a0001c0001t0001g0098others(50): Show | 53 | 268 | 0.1978 | -2414 | c.104 others(21): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ADAMTSL3_chr15_83649123_84044842 | 83872682 | CAACTTGG others(2403): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(70): Show |
a0001a0002a0010others(8): Show | a0001c0001a0001c0057a0002c0008others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0057t0001others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0067others(70): Show | 73 | 274 | 0.2664 | -2410 | c.960 others(17): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | chr15 | TogoVar | |||||||
| CBX1_chr17_48065059_48106478 | 48082503 | AAAAAAAA others(2401): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(13): Show | 16 | 396 | 0.0404 | -2408 | c.-37 others(17): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| KCNJ11_chr11_17380248_17393659 | 17382091 | TTAGTGCC others(2401): Show |
T | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 422 | 0.0024 | -2408 | c.*24 others(11): Show |
KCNJ11 | ENSG00000187486.7 | transcript | ENST00000339994.5 | protein_coding | 3156 | chr11 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805236 | CGCAGGCC others(2395): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 314 | 0.0032 | -2402 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 950 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805236 | CGCAGGCC others(2395): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 319 | 0.0031 | -2402 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3956 | chr2 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237016 | GCCTCCCG others(2389): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0099 | 1 | 106 | 0.0094 | -2396 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| PCOLCE2_chr3_142812874_142894083 | 142891525 | AATTACCT others(2387): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0141a0001c0001t0001g0154a0001c0001t0002g0155others(1): Show | 4 | 342 | 0.0117 | -2394 | c.-50 others(11): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 2443 | chr3 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76304530 | CGCCCCTA others(2387): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0013others(33): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(51): Show | a0001c0001t0002g0077a0001c0001t0002g0097a0001c0001t0002g0101others(57): Show | 60 | 166 | 0.3615 | -2394 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CUX1_chr7_101811007_102288958 | 102081266 | TGCTCCCA others(2385): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0108a0001c0002t0001g0034others(3): Show | 6 | 132 | 0.0455 | -2392 | c.301 others(19): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
| CUX1_chr7_101812626_102263233 | 102081266 | TGCTCCCA others(2385): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0022a0001c0001t0056a0001c0002t0001others(3): Show | a0001c0001t0022g0099a0001c0001t0056g0113a0001c0002t0001g0100others(3): Show | 6 | 136 | 0.0441 | -2392 | c.268 others(19): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1393212 | TGAGTCGT others(2385): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02647.hp2 others(3): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0002c0004others(1): Show | a0001c0003t0024a0002c0001t0002a0002c0001t0003others(3): Show | a0001c0003t0024g0003a0002c0001t0002g0013a0002c0001t0003g0022others(3): Show | 6 | 40 | 0.1500 | -2392 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |