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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAB2_chr5_39366677_39429980 | 39418512 | AGGGATGA others(84): Show |
A | intron_variant | MODIFIER | NA18986.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0107 | 1 | 412 | 0.0024 | -91 | c.-10 others(110): Show |
DAB2 | ENSG00000153071.15 | transcript | ENST00000320816.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132148945 | TGCCGCCG others(84): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 332 | 0.0030 | -91 | c.-47 others(102): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4627 | chr12 | TogoVar | |||||||
DHH_chr12_49081656_49099801 | 49082445 | GCACCATC others(84): Show |
G | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0066 | 1 | 422 | 0.0024 | -91 | c.*73 others(102): Show |
DHH | ENSG00000139549.4 | transcript | ENST00000649637.2 | protein_coding | 4210 | chr12 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277251 | GAGAGAAA others(84): Show |
G | intron_variant | MODIFIER | HG02074.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0021 |
2 | 48 | 0.0417 | -91 | c.389 others(110): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 346034 | AACCCAGA others(84): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(58): Show |
61 | 88 | 0.6932 | -91 | c.323 others(109): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452393 | GGGAAGGG others(84): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 |
a0003a0022 | a0003c0010a0022c0057 | a0003c0010t0007a0022c0057t0015 | a0003c0010t0007g0010 a0022c0057t0015g0115 |
2 | 110 | 0.0182 | -91 | c.360 others(110): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DSTYK_chr1_205137505_205216702 | 205209570 | GTTGGTTT others(84): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(134): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0007a0001c0015others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(14): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(128): Show |
137 | 346 | 0.3960 | -91 | c.265 others(108): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71691476 | TTGTCTGC others(84): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(148): Show |
151 | 190 | 0.7947 | -91 | c.*49 others(102): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 4714 | chr2 | TogoVar | |||||||
DYSF_chr2_71461699_71691763 | 71691476 | TTGTCTGC others(84): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(160): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(77): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0049 others(160): Show |
163 | 206 | 0.7913 | -91 | c.*49 others(102): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4714 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3246985 | GGAGGGAG others(84): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0144 |
2 | 184 | 0.0109 | -91 | c.416 others(110): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796390 | TATTATAT others(84): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 NA18990.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001 | a0001c0001t0006g0208 a0002c0002t0001g0231 |
2 | 330 | 0.0061 | -91 | c.-39 others(102): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3438 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666974 | GAGATGGA others(84): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG01975.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0014a0002c0002t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0009 others(39): Show |
44 | 409 | 0.1076 | -91 | c.*72 others(102): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3343 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667529 | AGATGGTG others(84): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0111 a0001c0001t0006g0227 |
2 | 312 | 0.0064 | -91 | c.*66 others(102): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2788 | chr18 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137441146 | CCCCCCCA others(84): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0016 a0001c0022t0001g0038 |
4 | 386 | 0.0104 | -91 | c.-21 others(105): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659293 | GGGGGTGA others(84): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0180 |
2 | 376 | 0.0053 | -91 | c.*52 others(102): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4906 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659339 | GGGGGTGA others(84): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0211 a0001c0001t0002g0291 |
2 | 376 | 0.0053 | -91 | c.*51 others(102): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4860 | chr8 | TogoVar | |||||||
ESS2_chr22_19125279_19149651 | 19135967 | TTACAATC others(84): Show |
T | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0083 | 1 | 430 | 0.0023 | -91 | c.103 others(108): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 8/9 | chr22 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584986 | GAAAGGAA others(84): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0006g0072 others(6): Show |
9 | 280 | 0.0321 | -91 | c.-15 others(108): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585102 | AGGAAGGA others(84): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0095 a0001c0001t0002g0097 a0001c0001t0005g0177 others(3): Show |
6 | 211 | 0.0284 | -91 | c.-15 others(108): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9023124 | GTATAATA others(84): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 255 | 0.0039 | -91 | c.*21 others(102): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1107 | chrX | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96659290 | TTTCCTTC others(84): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 a0001c0003t0001g0205 |
2 | 152 | 0.0132 | -91 | c.748 others(107): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FLOT2_chr17_28874339_28902733 | 28899047 | AAACAACA others(84): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | -91 | c.-15 others(102): Show |
FLOT2 | ENSG00000132589.16 | transcript | ENST00000394908.9 | protein_coding | 1315 | chr17 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777879 | TATATATT others(84): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0161 | 1 | 171 | 0.0058 | -91 | c.413 others(109): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361346 | CAGCACCA others(84): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0165 | 1 | 228 | 0.0044 | -91 | c.544 others(110): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361352 | CACCTCCA others(84): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 218 | 0.0046 | -91 | c.544 others(110): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361390 | CCACCTCC others(84): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 228 | 0.0044 | -91 | c.544 others(110): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361399 | GCACCACC others(84): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0071 | a0001c0001t0001g0049 a0001c0001t0071g0063 |
2 | 165 | 0.0121 | -91 | c.544 others(110): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292369 | TATATATA others(84): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 | 1 | 349 | 0.0029 | -91 | c.220 others(108): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680235 | CCTCCCTC others(84): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 76 | 0.0132 | -91 | c.150 others(110): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113829275 | AATCTCAG others(84): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01071.hp1 others(21): Show |
a0001a0002a0005 | a0001c0003a0001c0017a0002c0005others(1): Show | a0001c0003t0001a0001c0003t0005a0001c0017t0001others(2): Show | a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 others(21): Show |
24 | 142 | 0.1690 | -91 | c.114 others(108): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54896839 | GAACCGGG others(84): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | 344 | 0.0116 | -91 | c.343 others(108): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GDAP2_chr1_117858485_117934621 | 117932444 | GTGTTTTC others(84): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 362 | 0.0028 | -91 | c.-31 others(102): Show |
GDAP2 | ENSG00000196505.11 | transcript | ENST00000369443.10 | protein_coding | 2824 | chr1 | TogoVar | |||||||
GEMIN4_chr17_739421_757264 | 753052 | TTGGAGCG others(84): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00639.hp1 others(58): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0002a0003c0043others(2): Show | a0001c0001t0001a0003c0002t0002a0003c0002t0005others(3): Show | a0001c0001t0001g0004 a0003c0002t0002g0002 a0003c0002t0002g0013 others(6): Show |
61 | 409 | 0.1491 | -91 | c.-10 others(101): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 789 | chr17 | TogoVar | |||||||
GEMIN4_chr17_739421_757264 | 753166 | GCAAGATG others(84): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00733.hp1 others(41): Show |
a0001a0004a0007others(8): Show | a0001c0001a0001c0005a0004c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0003g0001 others(17): Show |
44 | 329 | 0.1337 | -91 | c.-11 others(102): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 903 | chr17 | TogoVar | |||||||
GPR20_chr8_141351470_141372286 | 141367785 | AGAGGGGC others(84): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0059 | 1 | 400 | 0.0025 | -91 | c.-70 others(100): Show |
GPR20 | ENSG00000204882.4 | transcript | ENST00000377741.4 | protein_coding | 500 | chr8 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623416 | CGTGAGGG others(84): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0006 | a0006c0008 | a0006c0008t0013 | a0006c0008t0013g0040 | 1 | 398 | 0.0025 | -91 | c.-21 others(102): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2063 | chr2 | TogoVar | |||||||
GRIP2_chr3_14484107_14545342 | 14542443 | GAAGATTG others(84): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01361.hp1 |
a0001a0008 | a0001c0002a0008c0034 | a0001c0002t0001a0008c0034t0045 | a0001c0002t0001g0208 a0008c0034t0045g0328 |
2 | 386 | 0.0052 | -91 | c.-22 others(102): Show |
GRIP2 | ENSG00000144596.13 | transcript | ENST00000621039.5 | protein_coding | 2102 | chr3 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654109 | GAAAGAAA others(84): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 362 | 0.0028 | -91 | c.-22 others(102): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1989 | chr1 | TogoVar | |||||||
H2BC10_chr6_26267931_26278412 | 26276547 | AGGTGAAA others(84): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(250): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0004t0001g0000 others(2): Show |
253 | 394 | 0.6421 | -91 | c.*31 others(102): Show |
H2BC10 | ENSG00000278588.2 | transcript | ENST00000377733.4 | protein_coding | 3136 | chr6 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239317863 | TATTTCAC others(84): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02451.hp1 HG02647.hp2 others(5): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0034others(5): Show | a0001c0001t0001g0027 a0001c0001t0003g0093 a0001c0003t0034g0009 others(5): Show |
8 | 240 | 0.0333 | -91 | c.22+ others(108): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
IFI44L_chr1_78615448_78651145 | 78620258 | TTTTCTTT others(84): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02738.hp2 HG04199.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0009a0006c0006t0049a0006c0006t0085 | a0001c0001t0009g0013 a0006c0006t0049g0054 a0006c0006t0085g0158 |
4 | 427 | 0.0094 | -91 | c.-32 others(100): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 189 | chr1 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357854 | TATATATA others(84): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 262 | 0.0038 | -91 | c.-13 others(102): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1052 | chr6 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400637 | TAATATTA others(84): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA19012.hp2 |
a0005 | a0005c0015a0005c0032 | a0005c0015t0024a0005c0032t0001 | a0005c0015t0024g0060 a0005c0032t0001g0167 |
2 | 240 | 0.0083 | -91 | c.164 others(108): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714794 | ATTTTATT others(84): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 79 | 0.0127 | -91 | c.61+ others(110): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNN2_chr5_114357070_114501496 | 114379565 | TTATATAT others(84): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01081.hp2 others(81): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0021 others(80): Show |
84 | 248 | 0.3387 | -91 | c.121 others(112): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133208217 | ACCCCCAA others(84): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA18979.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0174 |
3 | 325 | 0.0092 | -91 | c.379 others(109): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 20/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133223455 | GTGTGTGT others(84): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0303 | 1 | 330 | 0.0030 | -91 | c.501 others(110): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | chr10 | TogoVar | |||||||
KRI1_chr19_10548085_10571010 | 10570180 | GCGTGAGC others(84): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 404 | 0.0025 | -91 | c.-42 others(102): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4171 | chr19 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6316017 | TAAACAGT others(84): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0020 others(7): Show |
10 | 83 | 0.1205 | -91 | c.-90 others(108): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769281 | CCCCCCGC others(84): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0063 | 1 | 345 | 0.0029 | -91 | c.-48 others(102): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4764 | chr9 | TogoVar |