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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0023a0001c0008t0001g0024 | 2 | 304 | 0.0066 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0267 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(147): Show |
a0001a0006a0008others(3): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0020others(147): Show | 150 | 304 | 0.4934 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG03017.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0176a0001c0001t0001g0177others(6): Show | 9 | 304 | 0.0296 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19066.hp2 |
a0002a0010 | a0002c0002a0010c0015 | a0002c0002t0001a0010c0015t0001 | a0002c0002t0001g0075a0010c0015t0001g0074 | 2 | 304 | 0.0066 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(28): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0004a0004c0006others(1): Show | a0002c0002t0001a0003c0004t0001a0004c0006t0001others(1): Show | a0002c0002t0001g0059a0002c0002t0001g0061a0002c0002t0001g0062others(28): Show | 31 | 304 | 0.1020 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 304 | 0.0033 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18999.hp2 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131a0002c0002t0001g0132a0002c0002t0001g0133 | 3 | 304 | 0.0099 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47431267 | T | TACTTAAT others(2661): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0001t0001g0067a0001c0001t0001g0107a0002c0002t0001g0050others(80): Show | 83 | 304 | 0.2730 | 2668 | c.253 others(2685): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 3/22 | chr3 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2661): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 264 | 0.0038 | 2668 | c.742 others(2685): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2661): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0242 | 1 | 271 | 0.0037 | 2668 | c.105 others(2687): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2662): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0319 | 6 | 434 | 0.0138 | 2669 | c.16+ others(2684): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2662): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316a0001c0001t0003g0317 | 2 | 434 | 0.0046 | 2669 | c.16+ others(2684): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2662): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0318 | 1 | 434 | 0.0023 | 2669 | c.16+ others(2684): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410879 | G | GGGGATCT others(2662): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0174 | 1 | 322 | 0.0031 | 2669 | c.-19 others(2680): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1733 | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2662): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0076 | 1 | 364 | 0.0028 | 2669 | c.445 others(2684): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251219 | C | CCCCCACA others(2662): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0029 | 1 | 116 | 0.0086 | 2669 | c.207 others(2688): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GOLGA4_chr3_37238271_37371879 | 37329984 | T | TGAAATGG others(2662): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0004 | 1 | 272 | 0.0037 | 2669 | c.619 others(2686): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2662): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 346 | 0.0029 | 2669 | c.-17 others(2680): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246072180 | T | TTAGTTCT others(2662): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0109 | 1 | 150 | 0.0067 | 2669 | c.532 others(2690): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SRARP_chr1_15999236_16013807 | 16002841 | T | TATAAAAT others(2662): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 400 | 0.0050 | 2669 | c.-14 others(2680): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1394 | chr1 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2663): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 434 | 0.0023 | 2670 | c.16+ others(2685): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2663): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 434 | 0.0023 | 2670 | c.16+ others(2685): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344654 | G | GCGGGGGG others(2663): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0178a0001c0001t0005g0181 | 2 | 268 | 0.0075 | 2670 | c.62+ others(2683): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2663): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 418 | 0.0024 | 2670 | c.96+ others(2685): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
BAIAP2L2_chr22_38079900_38115684 | 38110050 | A | AGAGACAC others(2663): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 | 1 | 18 | 0.0556 | 2670 | c.51+ others(2683): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2663): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0111 | 1 | 214 | 0.0047 | 2670 | c.565 others(2687): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(2663): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0024 | 1 | 308 | 0.0033 | 2670 | c.157 others(2685): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GOLGA4_chr3_37238271_37371879 | 37329984 | T | TGAAATGG others(2663): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 NA20300.hp2 |
a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0005a0007c0008t0006g0006a0007c0008t0006g0008 | 3 | 272 | 0.0110 | 2670 | c.619 others(2687): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GOLGA4_chr3_37238271_37371879 | 37329984 | T | TGAAATGG others(2663): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0007 | 1 | 272 | 0.0037 | 2670 | c.619 others(2687): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399235 | C | CCACCCCA others(2663): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 314 | 0.0032 | 2670 | c.-25 others(2687): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2663): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0205 | 1 | 316 | 0.0032 | 2670 | c.-30 others(2681): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2663): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 428 | 0.0023 | 2670 | c.283 others(2687): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2663): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 428 | 0.0023 | 2670 | c.283 others(2687): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2663): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 428 | 0.0023 | 2670 | c.283 others(2687): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | NA19240.hp2 | a0187 | a0187c0060 | a0187c0060t0001 | a0187c0060t0001g0033 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02040.hp1 NA18995.hp2 NA18999.hp2 |
a0015a0078 | a0015c0240a0015c0242a0078c0235 | a0015c0240t0001a0015c0242t0001a0078c0235t0001 | a0015c0240t0001g0048a0015c0242t0001g0053a0078c0235t0001g0001 | 3 | 342 | 0.0088 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0272 | a0272c0041 | a0272c0041t0001 | a0272c0041t0001g0213 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG03195.hp2 | a0259 | a0259c0272 | a0259c0272t0001 | a0259c0272t0001g0007 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp2 HG01884.hp1 HG01952.hp2 others(20): Show |
a0002a0003a0006others(8): Show | a0002c0004a0003c0002a0003c0254others(11): Show | a0002c0004t0001a0003c0002t0001a0003c0254t0001others(12): Show | a0002c0004t0001g0001a0002c0004t0001g0046a0002c0004t0001g0054others(19): Show | 23 | 342 | 0.0673 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | NA20300.hp1 | a0067 | a0067c0249 | a0067c0249t0001 | a0067c0249t0001g0028 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG01978.hp1 | a0073 | a0073c0246 | a0073c0246t0001 | a0073c0246t0001g0059 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp2 | a0048 | a0048c0046 | a0048c0046t0001 | a0048c0046t0001g0299 | 1 | 342 | 0.0029 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |