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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PUS7L_chr12_43713992_43763790 | 43736543 | AGAGAACC others(5518): Show |
A | exon_loss_variant | HIGH | HG03098.hp1 | a0013 | a0013c0013 | a0013c0013t0008 | a0013c0013t0008g0152 | 1 | 304 | 0.0033 | -5525 | c.136 others(13): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 6/9 | 1639/13567 | chr12 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17401464 | CCTGAGCT others(5514): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0105 a0002c0006t0002g0144 |
2 | 216 | 0.0093 | -5521 | c.261 others(19): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LIN54_chr4_82919603_83015823 | 82992804 | GGATCACG others(5509): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 302 | 0.0033 | -5516 | c.-33 others(18): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1085366 | GAAAGTGC others(5505): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(16): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0003g0035 a0001c0001t0005g0109 a0001c0001t0005g0111 others(16): Show |
19 | 160 | 0.1188 | -5512 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78628856 | AGGCACAA others(5500): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0058 |
2 | 294 | 0.0068 | -5507 | c.638 others(16): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 5/5 | chr13 | TogoVar | |||||||
PSKH1_chr16_67888254_67934676 | 67899602 | CGGGATTA others(5484): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0139 | 1 | 228 | 0.0044 | -5491 | c.-71 others(17): Show |
PSKH1 | ENSG00000159792.10 | transcript | ENST00000291041.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1085355 | TTGTTGTT others(5483): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0115 | 1 | 160 | 0.0063 | -5490 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185948298 | CAGACCAC others(5478): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp2 |
a0011a0012 | a0011c0052a0012c0053 | a0011c0052t0002a0012c0053t0001 | a0011c0052t0002g0078 a0012c0053t0001g0079 |
2 | 90 | 0.0222 | -5485 | c.182 others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113331138 | GAGGTTCT others(5474): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0034a0001c0009t0008a0001c0009t0011 | a0001c0007t0034g0073 a0001c0009t0008g0072 a0001c0009t0011g0070 |
3 | 158 | 0.0190 | -5481 | c.627 others(17): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160944007 | ATCTGGAA others(5466): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 206 | 0.0049 | -5473 | c.400 others(19): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16259053 | TTGAGCAA others(5463): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 73 | 0.0137 | -5470 | c.465 others(17): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8951973 | CCACGCCC others(5462): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03239.hp1 | a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0126 | 1 | 450 | 0.0022 | -5469 | c.259 others(16): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TFPI_chr2_187459230_187559435 | 187519576 | CCATCCGC others(5462): Show |
C | intron_variant | MODIFIER | HG02257.hp1 NA18522.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0026 a0001c0002t0003g0296 |
3 | 342 | 0.0088 | -5469 | c.-2- others(17): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51629935 | CTCCGATG others(5459): Show |
C | exon_loss_variant | HIGH | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 412 | 0.0024 | -5466 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 1/9 | 384/2993 | chr19 | TogoVar | ||||||
TRIM17_chr1_228402935_228421861 | 228411158 | TCCGCTCC others(5456): Show |
T | exon_loss_variant | HIGH | NA19002.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0011 | 1 | 410 | 0.0024 | -5463 | c.-12 others(8): Show |
TRIM17 | ENSG00000162931.12 | transcript | ENST00000366698.7 | protein_coding | 3/7 | 907/2064 | chr1 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15147986 | TATGTGTA others(5450): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 24 | 0.0417 | -5457 | c.419 others(19): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LRMDA_chr10_75426624_76565168 | 76495814 | TTTCAGTA others(5440): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01081.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0005g0033 others(15): Show |
18 | 46 | 0.3913 | -5447 | c.602 others(19): Show |
LRMDA | ENSG00000148655.16 | transcript | ENST00000611255.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109661255 | TGCCTTGA others(5438): Show |
T | splice_region_variant | LOW | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0005 | 1 | 345 | 0.0029 | -5445 | c.*2_ others(8): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 29092576 | TTTTCCAT others(5433): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0047 others(17): Show |
20 | 62 | 0.3226 | -5440 | c.-49 others(23): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
WDR45B_chr17_82609562_82653444 | 82634465 | CTGGGCGA others(5431): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 380 | 0.0026 | -5438 | c.142 others(17): Show |
WDR45B | ENSG00000141580.16 | transcript | ENST00000392325.9 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66166427 | GTGAGCCA others(5425): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02622.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0127 a0001c0001t0001g0293 others(13): Show |
16 | 320 | 0.0500 | -5432 | c.357 others(19): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAGE2B_chrX_55070030_55083909 | 55078478 | GTTTTTTT others(5424): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG02257.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0030 | 1 | 275 | 0.0036 | -5431 | c.320 others(13): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 5/5 | chrX | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4330209 | ACTCATAT others(5410): Show |
A | intron_variant | MODIFIER | HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0014 | a0001c0001t0005g0042 a0001c0002t0014g0064 |
2 | 80 | 0.0250 | -5417 | c.-26 others(23): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131589209 | AGTCTAAA others(5408): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 92 | 0.0109 | -5415 | c.682 others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
H2BC18_chr1_149806879_149817370 | 149811957 | TGTACTTG others(5406): Show |
T | frameshift_variant others(1): Show |
HIGH | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 364 | 0.0027 | -5413 | c.-50 others(9): Show |
p.Met others(3): Show |
H2BC18 | ENSG00000203814.7 | transcript | ENST00000369167.3 | protein_coding | 1/1 | 413/492 | 1/381 | 1/126 | chr1 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56771487 | TCCTCCGC others(5401): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 150 | 0.0067 | -5408 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771493 | GCCTCCTC others(5398): Show |
G | intron_variant | MODIFIER | HG00609.hp1 NA18973.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0002g0093 |
3 | 124 | 0.0242 | -5405 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75377083 | GAATGTGG others(5398): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00673.hp2 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
123 | 154 | 0.7987 | -5405 | c.52+ others(17): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 3/23 | chr1 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56775380 | ATTTTTTT others(5396): Show |
A | intron_variant | MODIFIER | HG03669.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0142 |
2 | 86 | 0.0233 | -5403 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775380 | ATTTTTTT others(5395): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02683.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0121 others(3): Show |
6 | 90 | 0.0667 | -5402 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56773017 | CCTAGGGT others(5394): Show |
C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154 | 1 | 158 | 0.0063 | -5401 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775381 | TTTTTTTT others(5394): Show |
T | intron_variant | MODIFIER | HG01099.hp1 NA18943.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0152 |
3 | 156 | 0.0192 | -5401 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 141 | 248 | 0.5685 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | |||
GRB10_chr7_50585068_50787896 | 50607304 | TGCATTCA others(5392): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 276 | 0.0036 | -5399 | c.119 others(16): Show |
GRB10 | ENSG00000106070.20 | transcript | ENST00000401949.6 | protein_coding | 13/18 | chr7 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771496 | TCCTCCTC others(5392): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 136 | 0.0074 | -5399 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775467 | AGAAGAAA others(5392): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 158 | 0.0063 | -5399 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SCN4B_chr11_118128377_118157823 | 118139466 | TACACATT others(5392): Show |
T | exon_loss_variant | HIGH | HG01099.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0168 | 1 | 444 | 0.0023 | -5399 | c.234 others(16): Show |
SCN4B | ENSG00000177098.9 | transcript | ENST00000324727.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41265463 | TGACCACC others(5390): Show |
T | frameshift_variant others(2): Show |
HIGH | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 248 | 0.0040 | -5397 | c.87_ others(8): Show |
p.Val others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 87/483 | 87/483 | 29/160 | chr17 | TogoVar | |||
DHRSX_chrX_2214506_2505976 | 2276916 | GGAACAGG others(5386): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0009 | a0009c0011 | a0009c0011t0009 | a0009c0011t0009g0008 | 1 | 48 | 0.0208 | -5393 | c.388 others(17): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 20823008 | ACAAGGGT others(5386): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 86 | 0.0116 | -5393 | c.336 others(19): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18996083 | CCACACAA others(5385): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030 | a0001c0001t0003g0153 a0001c0001t0030g0152 |
2 | 226 | 0.0088 | -5392 | c.21+ others(17): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
RIMKLB_chr12_8692991_8782191 | 8741162 | AGCCACTG others(5385): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02258.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 others(2): Show |
5 | 292 | 0.0171 | -5392 | c.176 others(17): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48541698 | AAAAGGGA others(5382): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0130 | 1 | 176 | 0.0057 | -5389 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
KRTAP3-3_chr17_40988430_40999164 | 40993776 | AGGCACTG others(5381): Show |
A | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 | a0002 | a0002c0000 | a0002c0000t0009 | a0002c0000t0009g0000 | 1 | 470 | 0.0021 | -5388 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 1/1 | 388/735 | 1/297 | 1/98 | chr17 | TogoVar | |||
RAB3GAP1_chr2_135047292_135175710 | 135068435 | TAGACTAT others(5380): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 278 | 0.0036 | -5387 | c.150 others(19): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF143_chr11_9456012_9533524 | 9482172 | ATGTTAGC others(5380): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 others(2): Show |
5 | 330 | 0.0152 | -5387 | c.645 others(17): Show |
ZNF143 | ENSG00000166478.10 | transcript | ENST00000396602.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 128923191 | ATCCCAGC others(5379): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 286 | 0.0035 | -5386 | c.182 others(20): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16463303 | TTTTTTTT others(5375): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0080 | 1 | 174 | 0.0057 | -5382 | c.670 others(19): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154121 | GGCGGGAC others(5375): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 431 | 0.0023 | -5382 | c.300 others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29735106 | CCCCAGAG others(5373): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0001a0004 | a0001c0020a0004c0045 | a0001c0020t0005a0004c0045t0002 | a0001c0020t0005g0005 a0004c0045t0002g0043 |
2 | 80 | 0.0250 | -5380 | c.668 others(19): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar |