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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MOCS1_chr6_39899170_39939462 | 39926754 | G | GAAGGAGG others(885): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 268 | 0.0037 | 892 | c.250 others(907): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(885): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 210 | 0.0048 | 892 | c.-5+ others(907): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439230 | C | CAGAGGGA others(885): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0001 | a0002c0001t0080 | a0002c0001t0080g0231 | 1 | 173 | 0.0058 | 892 | c.816 others(909): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(885): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 892 | c.91+ others(905): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(885): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0229 | 1 | 139 | 0.0072 | 892 | c.141 others(909): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(885): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0047 | 1 | 30 | 0.0333 | 892 | c.433 others(909): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01943.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0161 a0001c0001t0001g0295 others(6): Show |
9 | 245 | 0.0367 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0007a0001c0016 | a0001c0002t0016a0001c0007t0016a0001c0016t0028 | a0001c0002t0016g0104 a0001c0007t0016g0207 a0001c0016t0028g0085 |
3 | 239 | 0.0126 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 237 | 0.0042 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02723.hp2 others(2): Show |
a0001a0005 | a0001c0005a0001c0019a0005c0029 | a0001c0005t0008a0001c0005t0018a0001c0005t0045others(2): Show | a0001c0005t0008g0075 a0001c0005t0018g0093 a0001c0005t0045g0084 others(2): Show |
5 | 241 | 0.0207 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(62): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 others(62): Show |
65 | 301 | 0.2159 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0143 a0001c0001t0004g0144 |
2 | 238 | 0.0084 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 237 | 0.0042 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(885): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 |
2 | 234 | 0.0085 | 892 | c.117 others(909): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(885): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0108 |
2 | 234 | 0.0085 | 892 | c.117 others(909): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 67 | 0.0149 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 67 | 0.0149 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 67 | 0.0149 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290181 | G | GTCCCGTG others(885): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0281 | 1 | 288 | 0.0035 | 892 | c.166 others(907): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(885): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 154 | 0.0065 | 892 | c.115 others(909): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(885): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0002a0002c0010t0001 | a0001c0002t0002g0038 a0002c0010t0001g0130 |
2 | 148 | 0.0135 | 892 | c.907 others(909): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(885): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 3 | 0.3333 | 892 | c.597 others(909): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(885): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 121 | 0.0083 | 892 | c.-78 others(911): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(885): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 31 | 0.0323 | 892 | c.638 others(907): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(885): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0006 | a0003c0006t0036 | a0003c0006t0036g0342 | 1 | 174 | 0.0057 | 892 | c.299 others(909): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376854 | T | TCCACCCA others(885): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 280 | 0.0036 | 892 | c.-88 others(901): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 829 | chr19 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(885): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0036 | 1 | 8 | 0.1250 | 892 | c.424 others(909): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204340 | T | TATGATGA others(885): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0112 | 1 | 162 | 0.0062 | 892 | c.41- others(909): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(885): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 62 | 0.0161 | 892 | c.*53 others(903): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(885): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 100 | 0.0100 | 892 | c.-10 others(909): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142502400 | T | TGGTGTGG others(886): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0063 | 1 | 308 | 0.0032 | 893 | c.267 others(912): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(886): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 10 | 0.1000 | 893 | c.*10 others(906): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(886): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 115 | 0.0087 | 893 | c.474 others(910): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(886): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0001a0003 | a0001c0009a0003c0139 | a0001c0009t0051a0003c0139t0011 | a0001c0009t0051g0274 a0003c0139t0011g0270 |
2 | 246 | 0.0081 | 893 | c.680 others(910): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(886): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG02615.hp2 others(5): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0016others(4): Show | a0001c0001t0002g0260 a0001c0002t0001g0189 a0001c0002t0001g0244 others(5): Show |
8 | 252 | 0.0317 | 893 | c.680 others(910): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83022555 | C | CACTGTCC others(886): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 263 | 0.0038 | 893 | c.298 others(910): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 74 | 0.0135 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 74 | 0.0135 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 74 | 0.0135 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01943.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0261 others(1): Show |
4 | 77 | 0.0519 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0166 | 1 | 74 | 0.0135 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01891.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0039 others(6): Show |
9 | 82 | 0.1098 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0190 | 1 | 13 | 0.0769 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 |
a0001a0005 | a0001c0033a0005c0040 | a0001c0033t0006a0005c0040t0009 | a0001c0033t0006g0192 a0005c0040t0009g0191 |
2 | 14 | 0.1429 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp1 NA18950.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0027 | a0001c0001t0003a0001c0004t0002a0001c0004t0033others(1): Show | a0001c0001t0003g0133 a0001c0004t0002g0132 a0001c0004t0033g0131 others(1): Show |
4 | 16 | 0.2500 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 426 | 0.0023 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 353 | 0.0028 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18946.hp1 NA18962.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 8 | 360 | 0.0222 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAA others(886): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0114 | 1 | 234 | 0.0043 | 893 | c.215 others(910): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(886): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0023 | 1 | 234 | 0.0043 | 893 | c.215 others(910): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |