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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLI1_chr12_57454785_57477268 | 57465242 | T | TGCAACTA others(22): Show |
frameshift_variant | HIGH | HG01515.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0065 | 1 | 414 | 0.0024 | 29 | c.521 others(36): Show |
p.Phe others(5): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 5/12 | 966/3972 | 522/3321 | 174/1106 | chr12 | TogoVar | ||
GLI4_chr8_143262445_143281931 | 143276033 | A | ATTGGTTT others(40): Show |
frameshift_variant | HIGH | HG01074.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0005 | 1 | 394 | 0.0025 | 47 | c.361 others(54): Show |
p.Ser others(5): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 4/4 | 439/1335 | 362/1131 | 121/376 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
GLOD5_chrX_48756747_48778648 | 48761830 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0042 | 1 | 269 | 0.0037 | -1 | c.44d others(3): Show |
p.Gly others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 1/4 | 88/740 | 44/483 | 15/160 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GLOD5_chrX_48756747_48778648 | 48770946 | G | GT | frameshift_variant | HIGH | NA19068.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0152 | 1 | 269 | 0.0037 | 1 | c.225 others(4): Show |
p.Gly others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 3/4 | 270/740 | 226/483 | 76/160 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GLOD5_chrX_48756747_48778648 | 48771010 | C | CA | frameshift_variant | HIGH | NA18994.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0122 | 1 | 269 | 0.0037 | 1 | c.285 others(8): Show |
p.Pro others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 3/4 | 330/740 | 286/483 | 96/160 | chrX | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GLUD1_chr10_87045202_87099843 | 87051843 | T | TATACTTC others(51): Show |
frameshift_variant | HIGH | NA18967.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0169 | 1 | 334 | 0.0030 | 58 | c.155 others(70): Show |
p.Asn others(5): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 13/13 | 1658/3300 | 1584/1677 | 528/558 | chr10 | TogoVar | ||
GLUD2_chrX_121042610_121055094 | 121047985 | C | CG | frameshift_variant | HIGH | NA18949.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 1 | 314 | 0.0032 | 1 | c.304 others(4): Show |
p.Val others(5): Show |
GLUD2 | ENSG00000182890.5 | transcript | ENST00000328078.3 | protein_coding | 1/1 | 380/2485 | 305/1677 | 102/558 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GMIP_chr19_19624476_19648657 | 19633908 | C | CG | frameshift_variant | HIGH | HG01175.hp1 HG01934.hp2 HG02074.hp2 others(9): Show |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0002c0009t0002a0004c0004t0001others(1): Show | a0002c0009t0001g0061a0002c0009t0002g0159a0004c0004t0001g0049others(9): Show | 12 | 416 | 0.0289 | 1 | c.236 others(5): Show |
p.His others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 19/21 | 2494/3528 | 2366/2913 | 789/970 | chr19 | TogoVar | ||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0020a0002c0002t0001g0062others(12): Show | 21 | 416 | 0.0505 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | TogoVar | ||
GMPR_chr6_16233587_16300549 | 16295116 | A | AACTC | frameshift_variant | HIGH | NA18945.hp2 NA18971.hp1 NA19075.hp1 others(2): Show |
a0000 | a0000c0005a0000c0011 | a0000c0005t0002a0000c0011t0002 | a0000c0005t0002g0153a0000c0005t0002g0158a0000c0005t0002g0182others(2): Show | 5 | 344 | 0.0145 | 4 | c.970 others(11): Show |
p.Lys others(5): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 9/9 | 1081/1508 | 974/1038 | 325/345 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
GNB4_chr3_179391088_179456470 | 179419408 | TATCCCCA others(10): Show |
T | frameshift_variant | HIGH | NA19082.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0126 | 1 | 400 | 0.0025 | -17 | c.177 others(24): Show |
p.Tyr others(4): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 4/10 | 360/6315 | 177/1023 | 59/340 | chr3 | TogoVar | ||
GNL3L_chrX_54525219_54572289 | 54540187 | AT | A | frameshift_variant | HIGH | NA19001.hp2 | a0003 | a0003c0002 | a0003c0002t0007 | a0003c0002t0007g0135 | 1 | 277 | 0.0036 | -1 | c.138 others(4): Show |
p.Phe others(4): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 4/16 | 386/8684 | 138/1749 | 46/582 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GNPDA1_chr5_141995671_142018027 | 142002080 | T | TTCTTTGA others(6): Show |
frameshift_variant | HIGH | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 | 1 | 423 | 0.0024 | 13 | c.818 others(20): Show |
p.Glu others(5): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 7/7 | 857/2267 | 818/870 | 273/289 | chr5 | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GNRHR_chr4_67732118_67759388 | 67753821 | C | CTAGTTAG others(51): Show |
frameshift_variant others(1): Show |
HIGH | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0150 | 1 | 388 | 0.0026 | 58 | c.514 others(65): Show |
p.Gly others(5): Show |
GNRHR | ENSG00000109163.7 | transcript | ENST00000226413.5 | protein_coding | 1/3 | 567/4402 | 514/987 | 172/328 | chr4 | TogoVar | ||
GOLGA3_chr12_132763914_132833869 | 132816659 | CCTGGAGA others(48): Show |
C | frameshift_variant | HIGH | NA18939.hp2 | a0023 | a0023c0040 | a0023c0040t0002 | a0023c0040t0002g0234 | 1 | 308 | 0.0033 | -55 | c.232 others(62): Show |
p.Pro others(4): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 3/24 | 536/8938 | 232/4497 | 78/1498 | chr12 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82344780 | G | GTCCAGGA others(100): Show |
frameshift_variant | HIGH | NA18522.hp2 | a0026 | a0026c0028 | a0026c0028t0047 | a0026c0028t0047g0045 | 1 | 301 | 0.0033 | 107 | c.107 others(116): Show |
p.Asp others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1179/4452 | 1079/1569 | 360/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345106 | C | CATGTAGC others(12): Show |
frameshift_variant | HIGH | HG02698.hp2 | a0044 | a0044c0058 | a0044c0058t0025 | a0044c0058t0025g0143 | 1 | 301 | 0.0033 | 19 | c.753 others(26): Show |
p.Glu others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 853/4452 | 753/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ACGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG03579.hp2 | a0042 | a0042c0062 | a0042c0062t0041 | a0042c0062t0041g0157 | 1 | 301 | 0.0033 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0055 | a0055c0052 | a0055c0052t0001 | a0055c0052t0001g0091 | 1 | 301 | 0.0033 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(54): Show |
frameshift_variant others(1): Show |
HIGH | HG00733.hp1 HG01433.hp2 HG03225.hp1 |
a0016 | a0016c0015 | a0016c0015t0002 | a0016c0015t0002g0019 | 3 | 301 | 0.0100 | 61 | c.752 others(68): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23130375 | C | CCCACATC others(34): Show |
frameshift_variant others(1): Show |
HIGH | NA18612.hp2 | a0035 | a0035c0072 | a0035c0072t0016 | a0035c0072t0016g0031 | 1 | 204 | 0.0049 | 41 | c.103 others(50): Show |
p.Glu others(5): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1168/3822 | 1077/2007 | 359/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136601 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | HG02897.hp1 | a0068 | a0068c0025 | a0068c0025t0008 | a0068c0025t0008g0048 | 1 | 204 | 0.0049 | -55 | c.76_ others(61): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 221/3822 | 76/2007 | 26/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136613 | GGGAGGTG others(46): Show |
G | frameshift_variant | HIGH | NA19088.hp1 | a0069 | a0069c0059 | a0069c0059t0001 | a0069c0059t0001g0102 | 1 | 204 | 0.0049 | -53 | c.66_ others(59): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 209/3822 | 66/2007 | 22/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136619 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA19002.hp2 | a0031 | a0031c0062 | a0031c0062t0001 | a0031c0062t0001g0105 | 1 | 204 | 0.0049 | -55 | c.58_ others(61): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 203/3822 | 58/2007 | 20/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136631 | GGGAGGTG others(46): Show |
G | frameshift_variant | HIGH | NA19077.hp1 | a0032 | a0032c0070 | a0032c0070t0025 | a0032c0070t0025g0136 | 1 | 204 | 0.0049 | -53 | c.48_ others(59): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 191/3822 | 48/2007 | 16/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136633 | GAGGTGGG others(25): Show |
G | frameshift_variant | HIGH | HG01069.hp2 | a0036 | a0036c0024 | a0036c0024t0022 | a0036c0024t0022g0047 | 1 | 204 | 0.0049 | -32 | c.67_ others(37): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 189/3822 | 67/2007 | 23/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136637 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA18974.hp2 | a0033 | a0033c0061 | a0033c0061t0001 | a0033c0061t0001g0104 | 1 | 204 | 0.0049 | -55 | c.40_ others(60): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 185/3822 | 40/2007 | 14/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136649 | GGGAGGTG others(28): Show |
G | frameshift_variant | HIGH | HG03130.hp2 | a0070 | a0070c0060 | a0070c0060t0009 | a0070c0060t0009g0103 | 1 | 204 | 0.0049 | -35 | c.48_ others(40): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 173/3822 | 48/2007 | 16/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136652 | AGGTGGGG others(46): Show |
A | frameshift_variant | HIGH | NA18978.hp2 | a0034 | a0034c0071 | a0034c0071t0001 | a0034c0071t0001g0133 | 1 | 204 | 0.0049 | -53 | c.27_ others(58): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 170/3822 | 27/2007 | 9/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136656 | GGGGATGG others(46): Show |
G | frameshift_variant | HIGH | NA18612.hp2 | a0035 | a0035c0072 | a0035c0072t0016 | a0035c0072t0016g0031 | 1 | 204 | 0.0049 | -53 | c.23_ others(58): Show |
p.His others(3): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 166/3822 | 23/2007 | 8/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136697 | TGGGTAGG others(12): Show |
T | frameshift_variant | HIGH | HG01069.hp2 | a0036 | a0036c0024 | a0036c0024t0022 | a0036c0024t0022g0047 | 1 | 204 | 0.0049 | -19 | c.16_ others(24): Show |
p.Gln others(3): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 125/3822 | 16/2007 | 6/668 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350531 | TCACACAT others(15): Show |
T | frameshift_variant | HIGH | NA19001.hp2 | a0031 | a0031c0037 | a0031c0037t0009 | a0031c0037t0009g0065 | 1 | 200 | 0.0050 | -22 | c.219 others(31): Show |
p.Glu others(5): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2279/4304 | 2197/2499 | 733/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357903 | TTTCTTTG others(16): Show |
T | frameshift_variant | HIGH | NA19077.hp2 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0028 | 1 | 200 | 0.0050 | -23 | c.98_ others(29): Show |
p.Thr others(4): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 181/4304 | 98/2499 | 33/832 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGATGGGT others(63): Show |
frameshift_variant | HIGH | NA18968.hp1 | a0033 | a0033c0033 | a0033c0033t0004 | a0033c0033t0004g0041 | 1 | 182 | 0.0055 | 70 | c.68_ others(75): Show |
p.Met others(4): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334076 | A | AGGGAGGT others(48): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0051 | a0051c0023 | a0051c0023t0004 | a0051c0023t0004g0024 | 1 | 182 | 0.0055 | 55 | c.59_ others(60): Show |
p.Thr others(4): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 120/3731 | 59/1950 | 20/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334120 | G | GGGGATGG others(63): Show |
frameshift_variant | HIGH | HG03239.hp1 | a0057 | a0057c0022 | a0057c0022t0002 | a0057c0022t0002g0023 | 1 | 182 | 0.0055 | 70 | c.15_ others(75): Show |
p.His others(3): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 76/3731 | 15/1950 | 5/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGCTCC others(430): Show |
frameshift_variant | HIGH | HG00738.hp2 HG01099.hp2 |
a0007 | a0007c0028 | a0007c0028t0015a0007c0028t0016 | a0007c0028t0015g0046a0007c0028t0016g0047 | 2 | 396 | 0.0051 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG01070.hp1 HG01071.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004 | a0001c0005t0001g0008a0001c0005t0001g0087a0001c0005t0001g0091others(2): Show | 10 | 396 | 0.0253 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(406): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02717.hp2 HG02809.hp1 others(5): Show |
a0002 | a0002c0008 | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(1): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(1): Show | 8 | 396 | 0.0202 | 413 | c.239 others(422): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(432): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0042 | a0011c0042t0009 | a0011c0042t0009g0086 | 1 | 396 | 0.0025 | 439 | c.239 others(448): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | NA18988.hp2 NA19058.hp2 NA19070.hp2 |
a0001 | a0001c0019 | a0001c0019t0001a0001c0019t0003 | a0001c0019t0001g0055a0001c0019t0003g0035 | 3 | 396 | 0.0076 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(346): Show |
frameshift_variant | HIGH | HG03486.hp2 | a0006 | a0006c0031 | a0006c0031t0010 | a0006c0031t0010g0130 | 1 | 396 | 0.0025 | 353 | c.239 others(362): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(366): Show |
frameshift_variant | HIGH | NA18971.hp1 | a0003 | a0003c0068 | a0003c0068t0001 | a0003c0068t0001g0080 | 1 | 396 | 0.0025 | 373 | c.239 others(382): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | NA18966.hp2 | a0019 | a0019c0070 | a0019c0070t0001 | a0019c0070t0001g0082 | 1 | 396 | 0.0025 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00323.hp2 | a0001 | a0001c0065 | a0001c0065t0001 | a0001c0065t0001g0101 | 1 | 396 | 0.0025 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar |