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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD36C_chr2_95844548_95996824 | 95904116 | AGTGTGTG others(5609): Show |
A | exon_loss_variant | HIGH | NA18973.hp1 | a0034 | a0034c0046 | a0034c0046t0001 | a0034c0046t0001g0169 | 1 | 298 | 0.0034 | -5616 | c.285 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 52/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95894704 | ATCAACAA others(5608): Show |
A | exon_loss_variant | HIGH | NA19062.hp2 NA19076.hp1 |
a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0026 a0018c0027t0001g0073 |
2 | 298 | 0.0067 | -5615 | c.336 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 62/88 | chr2 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105234560 | CGTGGCAC others(5602): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 72 | 0.0139 | -5609 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5126927 | GAATATAC others(5598): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0161 |
2 | 286 | 0.0070 | -5605 | c.208 others(19): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 51015741 | ATCATATA others(5597): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0182 |
2 | 212 | 0.0094 | -5604 | c.316 others(19): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134900101 | AAGAAAAT others(5596): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 262 | 0.0038 | -5603 | c.72- others(17): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77380804 | AGGGACTC others(5594): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 150 | 0.0067 | -5601 | c.77- others(17): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77380804 | AGGGACTC others(5594): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 158 | 0.0063 | -5601 | c.23- others(17): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2454031 | TACAATTA others(5574): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 50 | 0.0200 | -5581 | c.110 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51629822 | CCCTGCCA others(5572): Show |
C | exon_loss_variant | HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show |
a0005 | a0005c0008a0005c0014a0005c0015others(4): Show | a0005c0008t0003a0005c0014t0003a0005c0014t0009others(8): Show | a0005c0008t0003g0020 a0005c0008t0003g0021 a0005c0008t0003g0065 others(27): Show |
32 | 414 | 0.0773 | -5579 | c.-50 others(12): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
TNFRSF13B_chr17_16934081_16977118 | 16944838 | CAGGGAGC others(5564): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18954.hp1 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0054 | 1 | 404 | 0.0025 | -5571 | c.200 others(17): Show |
TNFRSF13B | ENSG00000240505.9 | transcript | ENST00000261652.7 | protein_coding | 3/5 | chr17 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 105144379 | TTCTGGGC others(5558): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 141 | 0.0071 | -5565 | c.83- others(17): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114325917 | CCCACTGT others(5555): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02572.hp1 | a0000 | a0000c0014 | a0000c0014t0004 | a0000c0014t0004g0054 | 1 | 464 | 0.0022 | -5562 | c.541 others(13): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LCE1E_chr1_152781257_152793426 | 152787869 | GCTGTATT others(5550): Show |
G | splice_region_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(53): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 56 | 410 | 0.1366 | -5557 | c.*21 others(10): Show |
LCE1E | ENSG00000186226.9 | transcript | ENST00000368770.4 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
PTPN13_chr4_86589315_86820161 | 86725238 | TTCATGTC others(5545): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp2 others(7): Show |
a0004a0012 | a0004c0005a0004c0028a0012c0016 | a0004c0005t0004a0004c0005t0005a0004c0028t0005others(1): Show | a0004c0005t0004g0001 a0004c0005t0004g0002 a0004c0005t0004g0003 others(7): Show |
10 | 198 | 0.0505 | -5552 | c.160 others(19): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130628722 | TAAGATCG others(5535): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0002a0002c0049others(48): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(93): Show | a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0002g0163 others(142): Show |
147 | 264 | 0.5568 | -5542 | c.499 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PUS7L_chr12_43713992_43763790 | 43736543 | AGAGAACC others(5518): Show |
A | exon_loss_variant | HIGH | HG03098.hp1 | a0012 | a0012c0013 | a0012c0013t0008 | a0012c0013t0008g0182 | 1 | 306 | 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 | 218 | 0.0092 | -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 | 304 | 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 |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(16): Show | a0001c0001t0003g0035 a0001c0001t0020g0113 a0001c0001t0021g0116 others(16): Show |
19 | 162 | 0.1173 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0064 |
2 | 296 | 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 | a0001c0001t0010g0173 | 1 | 230 | 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 | a0002c0002t0026 | a0002c0002t0026g0115 | 1 | 162 | 0.0062 | -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 |
a0009a0010 | a0009c0052a0010c0053 | a0009c0052t0002a0010c0053t0001 | a0009c0052t0002g0077 a0010c0053t0001g0079 |
2 | 92 | 0.0217 | -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 | 160 | 0.0188 | -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 |
T | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 344 | 0.0029 | -5470 | c.465 others(17): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8951973 | CCACGCCC others(5462): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03239.hp1 | a0013 | a0013c0033 | a0013c0033t0001 | a0013c0033t0001g0116 | 1 | 452 | 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 | a0001c0002t0003g0022 a0001c0002t0003g0304 |
3 | 344 | 0.0087 | -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 | a0027 | a0027c0058 | a0027c0058t0003 | a0027c0058t0003g0087 | 1 | 414 | 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 | a0010 | a0010c0011 | a0010c0011t0003 | a0010c0011t0003g0040 | 1 | 412 | 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 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | 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 | 364 | 0.0028 | -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 | a0001c0001t0001g0029 a0001c0001t0001g0035 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 | a0001c0001t0006g0021 | 1 | 382 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0128 a0001c0001t0001g0294 others(13): Show |
16 | 322 | 0.0497 | -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 | a0000 | a0000c0006 | a0000c0006t0003 | a0000c0006t0003g0033 | 1 | 325 | 0.0031 | -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 | a0001c0002t0001g0039 | 1 | 94 | 0.0106 | -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 | a0000 | a0000c0003 | a0000c0003t0005 | a0000c0003t0005g0000 | 1 | 364 | 0.0028 | -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 | 160 | 0.0063 | -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 | a0001c0001t0001a0001c0001t0011a0001c0001t0014 | a0001c0001t0001g0145 a0001c0001t0011g0157 a0001c0001t0014g0093 |
3 | 160 | 0.0188 | -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(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(120): Show |
124 | 156 | 0.7949 | -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 | a0001c0001t0001g0114 a0001c0001t0001g0142 |
2 | 160 | 0.0125 | -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 a0001c0001t0001g0115 a0001c0001t0001g0122 others(3): Show |
6 | 160 | 0.0375 | -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 | a0001c0001t0015 | a0001c0001t0015g0154 | 1 | 160 | 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 | a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0152 |
3 | 160 | 0.0188 | -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 |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -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 |